Publications by authors named "José E Dipierri"

32 Publications

Continental Origin for Q Haplogroup Patrilineages in Argentina and Paraguay.

Hum Biol 2021 02;92(2):63-80

Instituto Multidisciplinario de Biología Celular (IMBICE), Consejo Nacional de Investigaciones Científicas y Técnicas de la Republica Argentina (CONICET)-Comisión de Investigaciones Científicas (CIC)-Universidad Nacional de La Plata (UNLP), La Plata, Argentina,

Haplogroup Q originated in Eurasia around 30,000 years ago. It is present in Y-chromosomes from Asia and Europe at rather low frequencies. Since America is undoubtedly one of the continents where this haplogroup is highly represented, it has been defined as one of the founding haplogroups. Its M3 clade has been early described as the most frequent, with pan-American representation. However, it was also possible to find several other haplogroup Q clades at low frequencies. Numerous mutations have been described for haplogroup Q, allowing analysis of its variability and assignment of its geographic origin. We have analyzed 442 samples of unrelated men from Argentina and Paraguay belonging to haplogroup Q; here we report specifically on 27 Q (xM3) lineages. We tested 3 single-nucleotide polymorphisms (SNPs) by amplified product-length polymorphism (APLP) analysis, 3 SNPs for restriction fragment length polymorphism (RFLP) analysis, 15 SNPs by Sanger sequencing, and 17 short tandem repeats (STRs). Our approach allowed us to identify five subhaplogroups. Q-M3 and Q-CTS2730/Z780 are undoubtedly autochthonous lineages and represent the most frequent subhaplogroups, with significant representation in self-defined aboriginal populations, and their autochthonous status has been previously described. The aim of present work was to identify the continental origin of the remaining Q lineages. Thus, we analyzed the STR haplotypes for the samples and compared them with haplotypes described by other authors for the rest of the world. Even when haplogroup Q lineages have been extensively studied in America, some of them could have their origin in post-Columbian human migration from Europe and Middle East.
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http://dx.doi.org/10.13110/humanbiology.92.2.01DOI Listing
February 2021

Newborn anthropometry, maternal capital, and altitude in the highland population from the province of Jujuy, Argentina.

Am J Phys Anthropol 2021 05 27;175(1):25-35. Epub 2020 Dec 27.

National University of Jujuy, Institute of Altitude Biology, Jujuy, Argentina.

Objective: To analyze variability in newborn (NB) anthropometry among Jujenean NBs as a function of geographic altitude (500 m to ≈4000 masl), maternal anthropometry and other maternal characteristics within the maternal capital framework.

Materials And Methods: Data obtained from 41,371 mother/child pairs recorded in the Jujuy Perinatal Information System (SIP) between 2009 and 2014, including: NB and maternal weight, length/height and BMI; gestational age (corrected); maternal age, educational level, nutritional status, and marital status; birth interval; and planned pregnancy. Based on the declared place of residence, the prevalence of unsatisfied basic needs (% UBN) was determined and the data was split into two altitudinal groups: highlands (HL, >2500 masl) and lowlands (LL, <2500 masl). ANOVA, Chi-squared and Pearson tests were applied as needed. Statistical associations between the response variables-NB weight, length and BMI-and maternal and environmental variables were tested using a Generalized Additive Mixed Model (GAMM).

Results: All NB and maternal anthropometric variables were lower in HL compared to LL; they also presented negative correlations with altitude, except NB length. Apart from gestational age and birth interval, HL and LL presented statistically significant differences in all study variables. GAMM results showed that maternal anthropometry was the main influence on NB weight and length.

Discussion: Of all the maternal capital features examined, only maternal anthropometric variables were found to protect offspring against the negative impact of HL environments.
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http://dx.doi.org/10.1002/ajpa.24215DOI Listing
May 2021

Proportionality indices, geographic altitude, and gestational age in newborns from Jujuy, Argentina.

Am J Hum Biol 2021 01 27;33(1):e23454. Epub 2020 Jun 27.

Instituto de Ecorregiones Andinas, Consejo Nacional de Investigaciones Científicas y Técnicas, Universidad Nacional de Jujuy, Jujuy, Argentina.

Background: There are several different proportionality indices (PRIs) to evaluate size at birth by gestational age (GA). Yet, the explanatory power of alternative PRIs has not been evaluated in highland (HL) populations.

Aim: Evaluate the relative utility of three PRIs, weight to length ratio (W/L), body mass index (BMI), and ponderal index (PI), for assessing nutritional status in newborns (NBs) from highland (HL ≥ 2000 m) and lowland (LL < 2000 m) regions of the Jujuy Province of Argentina.

Subjects And Methods: Births were registered by the Ministry of Health (Jujuy, 2009-2014). Data were grouped according to HL and LL altitude groups based on of maternal residence. The main outcome measures were the PRIs W/L ratio, BMI, and PI. Percentiles were generated by the LMS method and compared with references. ANOVAs and Pearson correlations were used to examine the relationship between outcome measures with weight and length by altitude, sex, and GA.

Results: In both altitude zones, W/L and BMI increased with GA, while PI stabilized between 37th and 42th weeks. The LL sample had significantly higher values for all the PRIs from the 37th week of GA. In the HL sample, the 50th percentiles for all three PRIs were lower than the reference. Regardless of GA and altitude level, BMI showed the lowest correlation with length and the higher with the weight.

Conclusion: The HL sample of term NBs had lower values for all PRIs compared to their LL counterparts. In both altitude zones, the BMI is the preferred PRI to evaluate the nutritional status.
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http://dx.doi.org/10.1002/ajhb.23454DOI Listing
January 2021

Reference percentiles for mid-upper arm circumference, upper arm muscle and fat areas in the Argentine child and adolescent population (4-14 years old).

Arch Argent Pediatr 2019 08;117(4):e347-e355

Instituto de Ecorregiones Andinas (INECOA), Universidad Nacional de Jujuy (UNJu)-CONICET.

Introduction: Mid-upper arm circumference (MUAC) is widely recognized as an adequate indicator of nutritional status.

Objective: To estimate the reference percentiles for MUAC, upper arm muscle area (UAMA), and upper arm fat area (UAFA) in the Argentine child and adolescent population using the LMS method (lambda, mu, sigma).

Materials And Methods: The sample was made up of schoolchildren aged 4.0-13.9 years living in Jujuy, Catamarca, Misiones, Buenos Aires, Mendoza, and Chubut. MUAC and tricipital skinfold anthropometric measurements were obtained between 2003 and 2008 as per standardized protocols. UAMA and UAFA were calculated, and percentiles by age and sex were estimated and compared using an analysis of variance.

Results: A total of 22 736 schoolchildren (11 397 boys and 11 339 girls) were included. The 50th percentile was higher for the MUAC and UAFA among girls and for the UAMA among boys. The MUAC curves showed sharper increases as of 7 years old in all percentiles among both boys and girls. A similar pattern was observed for the UAMA, with higher values among boys. Lastly, the UAFA showed a constant increase among girls and a stabilization among boys as of 11 years old. Differences for age were observed.

Conclusions: The tabulated and plotted percentiles and the MUAC, UAMA, and UAFA may be used as local references for epidemiological and anthropological studies.
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http://dx.doi.org/10.5546/aap.2019.eng.e347DOI Listing
August 2019

Paternal heritage in Jujuy province (Northwest Argentina): Evidence for sex-biased gene flow and genetic drift effects.

Am J Hum Biol 2019 07 30;31(4):e23262. Epub 2019 May 30.

Departamento de Genética, Antropología Física y Fisiología Animal, Facultad de Ciencia y Tecnología, Universidad del País Vasco (UPV/EHU), Bilbao, Spain.

Objectives: This study aimed to explore the diversity of paternal lineages in Jujuy province (Argentina) by analyzing Y chromosome markers. Furthermore, we examined among-population genetic variability based both on paternally (NRY haplotypes) and maternally (mtDNA haplogroups) inherited markers. We sought to evaluate the impact of sex-biased gene flow on genetic background in Jujuy, and contribute data on the microevolutionary forces acting in this zone.

Methods: DNA from 149 males from five Jujuy regions were analyzed for 12 non-recombining Y (NRY) markers. Genetic heterogeneity among Jujuy regions was evaluated through population differentiation tests. To identify potential genetic boundaries in Jujuy, analysis of molecular variance (AMOVA) and the Monmonier's algorithm implemented in the Barrier v2.2 software were employed.

Results: A clear divergence between Jujuy highlands and lowlands for NRY haplotypes was found. A marked discrepancy between genetic structuring for paternal lineages and the lack of geographical pattern for mitogenomes was confirmed by all statistical analyses.

Conclusions: Genetic structuring of paternal lineages is most likely caused by admixture processes that have occurred since colonial times in the Jujuy lowlands. Immigrants were predominantly male that settled in the lower altitude zones, due to the steep orography of the region. Input of allochthonous male lineages because of gene flow toward the lowlands would have increased diversity of NRY markers, thus compensating for drift effects. Likewise, limited input of allochthonous mitogenomes would have promoted genetic drift, a key factor in the shaping of diversity of maternal lineages across Jujuy subpopulations, irrespective of altitude.
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http://dx.doi.org/10.1002/ajhb.23262DOI Listing
July 2019

Infant mortality due to congenital malformations in the Autonomous City of Buenos Aires (1998-2015): Spatial, temporal analysis and relation to the socioeconomic status.

Arch Argent Pediatr 2019 06;117(3):171-178

Instituto de Biología de la Altura, Universidad Nacional de Jujuy, San Salvador de Jujuy.

Introduction: In Argentina, congenital malformations (CM) account for the second cause of death among infants younger than 1 year.

Objective: To analyze spatial and temporal variation in infant mortality due to CM in the Autonomous City of Buenos Aires and its relation to a socioeconomic development indicator.

Materials And Methods: Births and deaths among infants younger than 1 year were coded using the International Classification of Diseases (ICD-10); data were provided by the Ministry of Health. Geographical areas: northern, central and southern. The nervous system, the cardiovascular system, chromosomal abnormalities, and 28 specific malformations were evaluated. Infant mortality rate due to CM (IMR-CM) and the percentage of deaths from CM (PD-CM) were estimated in 3 periods (1998-2003, 2004-2009, 2010-2015). Secular trend and risk of death were estimated using the Poisson regression model. A socioeconomic development indicator correlated to the IMR-CM and the PD-CM was obtained by means of a principal component analysis.

Results: The IMR-CM and the PD-CM had, respectively, a negative and positive secular trend with statistical significance, and exhibited a differentiation by areas. The IMR-CM values decreased for central nervous system and cardiovascular system malformations, and increased for chromosomal abnormalities (p < 0.05). The IMR-CM and the PD-CM were positively and negatively correlated, respectively, with the socioeconomic indicator (p < 0.05).

Conclusion: Infant mortality indicators due to CM in the Autonomous City of Buenos Aires are spatially and temporally heterogeneous, and are related to the socioeconomic characteristics of the areas.
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http://dx.doi.org/10.5546/aap.2019.eng.171DOI Listing
June 2019

Epidemiology of sudden unexpected death in infancy in Argentina: secular trend and spatial variation.

Arch Argent Pediatr 2019 06;117(3):164-170

Instituto de Ecorregiones Andinas (INECOA)-UNJu-Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET)-Instituto de Biología de la Altura (INBIAL), San Salvador de Jujuy.

Introduction: Infant mortality comprises deaths among infants younger than one year old. The proportion of sudden unexpected death in infancy (SUDI) varies by country and based on the cause of death.

Objective: To describe the spatial and temporal variation of SUDI in Argentina between 1991 and 2014 according to the International Classification of Diseases, tenth revision.

Materials And Methods: Based on infant death data (provided by the Health Statistics and Information Department), we estimated the percentage of SUDI over the total number of infant deaths and the frequency of causes of death at a provincial, regional, and national level. The risk for death and the secular trend were estimated using a Poisson regression. The SaTScan software, v9.1.1, was used to detect clusters of districts where the percentage of SUDI was significantly different from the national percentage.

Results: In Argentina, between 1991 and 2014, 267 552 infants younger than 1 year died; 7 % corresponded to SUDI; the secular trend of causes was negative and statistically significant; the risk for SUDI was 0.86, and a great spatial heterogeneity was observed. At a national level, the most common cause was sudden infant death syndrome, with inter-regional differences. In nine district clusters, the risk for SUDI ranged between 4.36 and 1.24, which is significantly different from the rest of the country.

Conclusions: The proportion of SUDI and its causes show inter-regional heterogeneity; codes related to inaccurate diagnoses predominated in more unfavorable regions, while sudden infant death syndrome was prevalent in the more developed regions.
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http://dx.doi.org/10.5546/aap.2019.eng.164DOI Listing
June 2019

Geographic altitude and prevalence of underweight, stunting and wasting in newborns with the INTERGROWTH-21st standard.

J Pediatr (Rio J) 2019 May - Jun;95(3):366-373. Epub 2018 May 31.

Consejo Nacional de Investigaciones Científicas y Técnicas (Conicet), Instituto de Ecorregiones Andinas (Inecoa), Jujuy, Argentina; Universidad Nacional de Jujuy, Instituto de Biología de la Altura, Jujuy, Argentina.

Objective: To assess the prevalence and risks of underweight, stunting and wasting by gestational age in newborns of the Jujuy Province, Argentina at different altitude levels.

Methods: Live newborns (n=48,656) born from 2009-2014 in public facilities with a gestational age between 24 to 42 weeks. Phenotypes of underweight (
Results: The prevalence of underweight, stunting and wasting were 1.27%, 3.39% and 4.68%, respectively, and significantly higher at >2.000m.a.s.l. Maternal age, body mass index >35kg/m, hypertension, congenital malformations, and prematurity were more strongly associated with underweight rather than stunting or wasting at ≥2.000m.a.s.l.

Conclusions: Underweight, stunting, and wasting risks were higher at a higher altitude, and were associated with recognized maternal and fetal conditions. The use of those three phenotypes will help prioritize preventive interventions and focus the management of fetal undernutrition.
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http://dx.doi.org/10.1016/j.jped.2018.03.007DOI Listing
October 2019

Population structure in Argentina.

PLoS One 2018 1;13(5):e0196325. Epub 2018 May 1.

Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, United States.

We analyzed 391 samples from 12 Argentinian populations from the Center-West, East and North-West regions with the Illumina Human Exome Beadchip v1.0 (HumanExome-12v1-A). We did Principal Components analysis to infer patterns of populational divergence and migrations. We identified proportions and patterns of European, African and Native American ancestry and found a correlation between distance to Buenos Aires and proportion of Native American ancestry, where the highest proportion corresponds to the Northernmost populations, which is also the furthest from the Argentinian capital. Most of the European sources are from a South European origin, matching historical records, and we see two different Native American components, one that spreads all over Argentina and another specifically Andean. The highest percentages of African ancestry were in the Center West of Argentina, where the old trade routes took the slaves from Buenos Aires to Chile and Peru. Subcontinentaly, sources of this African component are represented by both West Africa and groups influenced by the Bantu expansion, the second slightly higher than the first, unlike North America and the Caribbean, where the main source is West Africa. This is reasonable, considering that a large proportion of the ships arriving at the Southern Hemisphere came from Mozambique, Loango and Angola.
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0196325PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5929549PMC
August 2018

Prevalence of underweight and small for gestational age in Argentina: Comparison between the INTERGROWTH-21st standard and an Argentine reference

Arch Argent Pediatr 2017 12;115(6):547-555

Instituto de Ecorregiones Andinas (INECOA), Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Universidad Nacional de Jujuy (UNJu), Instituto de Biología de la Altura (INBIAL), San Salvador de Jujuy.

Introduction: The term “low birth weight” (< 2500 g) encompasses preterm newborns and term newborns small for gestational age (SGA) (< P10). The World Health Organization de nes underweight as a birth weight < P3 of weight/ age. There is no consensus at an international level about which standards and/or references related to birth weight for gestational age (GA) should be used to assess SGA and underweight among preterm newborns. Underweight and SGA prevalence was determined using the INTERGROWTH-21st standard and Urquía’s reference for the Argentine population, and agreement between the prevalence observed with both tools was analyzed.

Population And Methods: Observational, analytical, and retrospective study based on all births occurred in 2013 as reported by the Argentine National Ministry of Health. Exclusion criteria were GA < 24+0 - > 42+6 weeks, twin pregnancy, and missing data on weight, GA, and sex. Prevalence was estimated by sex, region, and prematurity category for underweight and SGA according to the standard and the reference. Agreement was assessed using the Kappa index.

Results: The prevalence of underweight and SGA was higher according to the standard among preterm newborns; the contrary was observed among full-term newborns. Statistical signi cance varied based on GA category, sex, and region. A higher prevalence was observed in the northern regions of Argentina, and agreement among prevalence values ranged from weak to very good.

Conclusions: Prevalence agreement of underweight and SGA observed according to the standard and the reference among preterm and full-term newborn infants was moderate, with interregional variability. Results propose new auxological perspectives in the epidemiological assessment of intrauterine growth restriction in Argentina.
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http://dx.doi.org/10.5546/aap.2017.eng.547DOI Listing
December 2017

Relationship between infant mortality and altitude in the Northwest region of Argentina.

Arch Argent Pediatr 2017 Oct;115(5):462-469

Área de Genética Médica y Poblacional, Hospital Ramos Mejía, Ciudad de Buenos Aires.

Introduction: Given its location on the Andes, the Northwest region of Argentina is geographically, socioeconomically, culturally, and biologically heterogeneous, and this is reflected on an infant mortality rate (IMR) that is higher than in any other Argentine region.

Objetive: To estimate IMR, neonatal mortality rate (NMR), and post-neonatal mortality rate (PNMR), and to analyze their spatial and temporal variations using secular trends and the relative risk based on altitudinal zones.

Population And Method: This was a retrospective, descriptive, correlational study based on birth and death data recorded in the Northwest region of Argentina (1998-2010); IMR, NMR, PNMR, secular trends, and the relative risk of death were calculated by district and altitudinal zone (districts at < 2000 meters above sea level, lowlands; at > 2000 meters above sea level, highlands) by means of a cluster analysis.

Results And Conclusions: Rates were higher in the highlands; IMR was 29.8%o (versus 15.6%o in the lowlands); PNMR was 17.7% in the highlands (versus 5.2% in the lowlands). In the highlands, there was an annual average reduction of 3.9% in IMR and of 4.1% in PNMR; in the lowlands, such reduction was of 7.0% in IMR and of 9.3% in PNMR. The relative risk of IMR and PNMR was significantly higher at high-altitude zones. NMR, its secular trend, and the relative risk did not show statistically significant differences between both altitudinal zones.
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http://dx.doi.org/10.5546/aap.2017.eng.462DOI Listing
October 2017

STR Markers Unveil Microgeographic Differentiation over the Steep Mountainous Landscape of Jujuy Province, Northwest Argentina.

Hum Biol 2016 Jul;88(3):210-218

1 Departamento de Genética y Antropología Física, Facultad de Ciencia y Tecnología, Universidad del País Vasco (UPV/EHU), Bilbao, Spain.

This study explores potential signals of microdifferentiation in the gene pool of three high-altitude populations from Jujuy province in northwest Argentina using highly polymorphic markers. These human communities are characterized by extreme living conditions and very low population densities owing to considerable height above sea level and steep orography. A set of autosomal short tandem repeats (STRs) located at chromosome 6 (6p21.3) was typed in samples from Quebrada Baja (∼2,500 m), Quebrada Alta (∼3,300 m), and Puna (> 3,500 m). Genetic diversity was estimated through the observed and expected heterozygosities and the haplotype diversity. Analyses of the molecular variance (AMOVAs) and population differentiation tests based on allele and haplotype frequencies were performed to assess genetic heterogeneity among subgroups. No deviation from Hardy-Weinberg equilibrium was detected in any subpopulation, yet significant departures were detected in the analysis considering the whole area (D6S2792 and D6S105 loci). Overall, genetic diversity showed a decreasing trend as the altitude increased. Thus, allele and haplotype frequencies showed the most significant differences between Puna and Quebrada Baja, the populations sited at the edges of the altitude range. The trend toward reduction of heterozygosity with altitude is compatible with historical patterns of colonization, interregional migration trends, population density, and genetic admixture. The main consequence of the complex mountainous landscape of Jujuy would be an imbalance in the interplay of gene flow and genetic drift, favoring the latter. The combined effect of restricted gene flow and intense genetic drift would have promoted local genetic differentiation between the Jujuy highland subpopulations, leading to spatial patterning of the allele frequencies not entirely attributable to geographic distance. Our findings corroborate the effectiveness of STRs to identify microevolutionary changes.
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http://dx.doi.org/10.13110/humanbiology.88.3.0210DOI Listing
July 2016

Study of fingerprints in Argentina population for application in personal identification.

Sci Justice 2017 05 22;57(3):199-208. Epub 2017 Feb 22.

Brigada de Policía Científica de la Comisaría de Alcalá de Henares, Spain; Instituto Universitario de Investigación en Ciencias Policiales, Universidad de Alcalá, Alcalá de Henares, Spain.

The fingerprints of the Buenos Aires and Chubut provinces in Argentina have been studied, with the aim of knowing and quantifying the variability of these features, which are used in the identification process. The data studied for this research was obtained from 330 individuals, of both sexes, from two Argentinian population samples (170 individuals from Buenos Aires and 160 from Chubut), which amounts to a total of 3300 fingerprints. The different types of minutiae were located, identified, and visually quantified in four areas on the fingerprint. Two perpendicular axes were drawn whose intersection was located in the center of fingerprint. In addition, a circle was defined on these quadrants whose radius cut fifteen ridges. This method divides the fingerprints into four quadrants with two sectors apiece. The results obtained for both populations were compared statistically with those published previously for an Argentinian population sample, which had been collected using the same methodology. Therefore, Argentina becomes the country with the most information in this matter. For both populations, the highest frequencies were of ridge endings, followed by bifurcations and convergences. In this study of minutiae, statistically significant differences were found between the area of the fingerprint (inside and outside the circle), males and females, and types of main pattern for both samples. However, although the results show common patterns in the distribution of minutiae, there are also significant differences between populations. This reveals a significant ancestral and frequency effect of the minutiae, which would indicate that the minutiae are more genetically dependent than has been suspected so far. Furthermore, the non-equiprobability found for the frequency of the types of minutiae indicates that the weight provided by these characteristics is not the same when applied in identification processes, whether used quantitatively (numerical standard) or qualitatively (holistic method).
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http://dx.doi.org/10.1016/j.scijus.2017.02.004DOI Listing
May 2017

SUBSCAPULAR AND TRICEPS SKINFOLDS REFERENCE VALUES OF HISPANIC AMERICAN CHILDREN AND ADOLESCENTS AND THEIR COMPARISON WITH THE REFERENCE OF CENTERS FOR DISEASE CONTROL AND PREVENTION (CDC).

Nutr Hosp 2015 Dec 1;32(6):2862-73. Epub 2015 Dec 1.

Instituto de Biología de la Altura. Universidad Nacional de Jujuy, Argentina..

Introduction: the assessment of the skinfold thickness is an objective measure of adiposity. Therefore, it is a useful tool for nutritional diagnosis and prevention of metabolic risk associated with excess fat in chilhood and adolescence.

Objective: to provide percentiles of subscapular and triceps skinfolds for Hispanic American schoolchildren and compare them with those published by the Centers for Disease Control and Prevention (CDC) from United States, that it have been commonly used as a reference in most of these countries.

Methods: subscapular and triceps skinfolds were measured in 9.973 schoolchildren 4-19 aged from Spain, Argentina, Cuba, Venezuela and Mexico with Holtain caliper with 0.2 mm accuracy. Percentiles were obtained with the LMS statistical method and were presented in tables divided in stages of 6 months and in curves graphics. The difference between Hispanic American and CDC mean values were provided for P3, P50 and P97 in mm and also were graphically represented.

Results: skinfolds measurements obviously increased with age in both sexes but, in boys, this increase is much more marked in highest percentiles between 8 and 13 years; this maximum is reached earlier than what occurs in CDC reference. In both sexes, all percentiles analized in Hispanic American schoolchildren were higher than the CDC reference except P97 up to 10 or 13 years that was notably smaller.

Conclusions: the skinfolds percentiles of Hispanic American children and adolescents differ from CDC that are usually used as reference. The values of subscapular and triceps skinfolds provided in this study, could be applied to populations of a similar ethnic background, especially in comparative studies of body composition.
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http://dx.doi.org/10.3305/nh.2015.32.6.9775DOI Listing
December 2015

Fingerprint ridge density in the Argentinean population and its application to sex inference: A comparative study.

Homo 2016 Feb 21;67(1):65-84. Epub 2015 Sep 21.

Departamento de Ciencias de la Vida, Facultad de Biología, CC Ambientales y Química, Universidad de Alcalá, Campus Universitario, Crta, Madrid-Barcelona Km 33,6, E 28871 Alcalá de Henares, Madrid, Spain; Instituto Universitario de Investigación en Ciencias Policiales, Universidad de Alcalá, 28802 Alcalá de Henares, Spain. Electronic address:

Fingerprint ridge density (RD) is known to vary according to sex and population, and such variation can be used for forensic purposes. The aim of this study was to analyze the fingerprint RD of two samples of the Argentinean population in order to assess their topological, digital, bilateral, sexual, and population differences for subsequent application in the inference of sex. Data were collected from the fingerprints of 172 individuals from the Buenos Aires province and 163 from the Chubut province. RD was assessed for three different count areas for all 10 fingers of each individual. In both sexes and both samples, significant differences among areas were obtained, so that radial-RD>ulnar-RD>proximal-RD. Females presented greater RD than males in all areas and on all fingers. Regarding population differences, no significant differences were found between the Buenos Aires and Chubut samples (except for proximal RD in males). However, both samples showed RD significantly different from that of the Jujuy province. The application of Bayes' theorem allowed for the identification of an RD threshold for discrimination of sexes in these Argentinean samples. In conclusion females consistently exhibit narrower epidermal ridges than males, which may evidence a universal pattern of sexual dimorphism in this trait that can be useful in forensics in the identification of individuals.
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http://dx.doi.org/10.1016/j.jchb.2015.09.004DOI Listing
February 2016

Weight and height percentiles calculated by the LMS method in Argentinean schoolchildren. A comparative references study.

Ann Hum Biol 2015 30;42(5):439-46. Epub 2014 Oct 30.

f Grupo de Investigación en Epidemiología Nutricional, Departamento de Zoología y Antropología Física, Facultad de Ciencias Biológicas , Universidad Complutense de Madrid , Madrid , España .

Background: The Argentinean population is characterized by ethnic, cultural and socio-economic diversity.

Aim: To calculate the percentiles of weight-for-age (W/A) and height-for-age (H/A) of schoolchildren from Argentina employing the LMS method; and to compare the obtained percentiles with those of the international and national references.

Subjects And Methods: Anthropometric data of 18 698 students (8672 girls and 10 026 boys) of 3-13 years old were collected (2003-2008) from Buenos Aires, Catamarca, Chubut, Jujuy, La Pampa and Mendoza. Percentiles of W/A and H/A were obtained with the LMS method. Statistical and graphical comparisons were established with the WHO (international reference) and with that published by the Argentinean Paediatric Society (national reference).

Results: Differences in W/A and H/A, regarding the references, were negative and greater at the highest percentiles and in most of the age groups. On average, the differences were greater for boys than girls and for national than international references.

Conclusion: The distribution of weight and height of schoolchildren, coming from most regions of the country, differs from those of national and international references. It should be advisable to establish a new national reference based on internationally recognized methodological criteria that adequately reflect the biological and cultural diversity of the Argentinean populations.
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http://dx.doi.org/10.3109/03014460.2014.968207DOI Listing
August 2016

Surnames, geographic altitude, and digital dermatoglyphics in a male population from the province of Jujuy (Argentina).

Homo 2014 Jun 11;65(3):256-66. Epub 2014 Mar 11.

Departamento de Ciencias de la Vida, Facultad de Biología, Ciencias Ambientales y Química, Universidad de Alcalá, 28871 Alcalá de Henares, España; Instituto Universitario de Investigación en Ciencias Policiales, Universidad de Alcalá, 28802 Alcalá de Henares, Spain.

The possible association between finger dermatoglyphic patterns and altitude and surname distribution was analyzed in a sample of adult males from the province of Jujuy, Argentina. We also investigated the biological affinity of this population with other South American natives and admixed populations. Fingerprints were obtained from 996 healthy men, aged 18-20 years, from the highlands (HL: 2500m, Puna and Quebrada) and lowlands (LL: Valle and Selvas). Surnames were classified into native/autochthonous (A) or foreign (F), resulting in three surname classes: FF, when both paternal and maternal surnames were of foreign origin; FA, when one surname was foreign and the other was native; and AA, when both surnames were native. Frequencies of finger dermatoglyphic patterns - arches (A), radial loops (RL), ulnar loops (UL), and whorls (W) - were determined for each digit in relation to geographic location, altitude, and surname origin, resulting in the following categories: HL-FF, HL-FA, HL-AA, LL-FF, LL-FA, and LL-AA. The statistical analyses showed that UL and RL were more common in individuals of HL origin, whereas W and A were more frequent in the LL males (p<0.05). Significant associations were observed between finger dermatoglyphic patterns and surname origin when geographic altitude was considered. In the HL group, UL was associated with AA and FA; in the LL group, the presence of A was associated with FF and FA. The distribution of dermatoglyphic patterns shows that the population of Jujuy belongs to the Andean gene pool and that it has undergone differential levels of admixture related to altitude.
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http://dx.doi.org/10.1016/j.jchb.2014.01.001DOI Listing
June 2014

A comparative study of topological and sex differences in fingerprint ridge density in Argentinian and Spanish population samples.

J Forensic Leg Med 2013 Jul 19;20(5):419-29. Epub 2013 Jan 19.

Departamento de Zoología y Antropología Física, Facultad de Biología, Universidad de Alcalá, Campus Universitario, Crta. Madrid-Barcelona Km 33,6, 28871 Alcalá de Henares, Madrid, Spain.

Although several studies have recently assessed sex differences in fingerprint ridge density and its variability in human populations from different origins, such a study has not been carried out yet in the Amerindian population. The goal of this study was to determine the topological and sexual differences in fingerprint ridge density (RD) in native subjects from two samples of northwestern Argentina (Jujuy province) living at different altitudes. The results were compared with those obtained from a Spanish population sample. The study was based on data from all 10 fingerprints of 393 adult Argentinian men and women, 193 from the Puna-Quebrada region (more than 2500 m above sea level) and 200 from Ramal (500 m above sea level). Ridge density was assessed for three different areas (radial, ulnar and proximal) for all 10 fingers of each subject. In both samples, significant differences between areas were obtained, so radial RD > ulnar RD > proximal RD. No significant differences were found between samples in males, while females from both samples significantly differed in the radial and proximal areas. Females have higher RD, so narrower ridges, than men, in all areas and all fingers. Application of Bayes' theorem allowed us to obtain a ridge density threshold for discrimination of sexes in Argentinian samples and the threshold for discrimination of populations between Argentinian and Spanish samples. These results can be useful for forensic use.
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http://dx.doi.org/10.1016/j.jflm.2012.12.002DOI Listing
July 2013

Young Alu insertions within the MHC class I region in native American populations: insights into the origin of the MHC-Alu repeats.

Am J Hum Biol 2013 May-Jun;25(3):359-65. Epub 2013 Apr 6.

Departamento de Genética y Antropología Física, Facultad de Ciencia y Tecnología, Universidad del País Vasco (UPV/EHU), Bilbao, Spain.

Objectives: Genetic heterogeneity of two Amerindian populations (Jujuy province, Argentina, and Waorani tribe, Ecuador) was characterized by analyzing data on polymorphic Alu insertions within the human major histocompatibility complex (MHC) class I region (6p21.31), which are completely nonexistent in Native Americans. We further evaluated the haplotype distribution and genetic diversity among continental ancestry groups and their potential implications for the dating of the origin of MHC-Alus.

Methods: Five MHC-Alu elements (AluMicB, AluTF, AluHJ, AluHG, and AluHF) were typed in samples from Jujuy (N = 108) and Waorani (N = 36). Allele and haplotype frequency data on worldwide populations were compiled to explore spatial structuring of the MHC-Alu diversity through AMOVA tests. We utilized the median-joining network approach to illustrate the continental distribution of the MHC-Alu haplotypes and their phylogenetic relationships.

Results: Allele and haplotype distributions differed significantly between Jujuy and Waorani. The Waorani featured a low average heterozygosity attributable to strong population isolation. Overall, Alu markers showed great genetic heterogeneity both within and among populations. The haplotype distribution was distinctive of each continental ancestry group. Contrary to expectations, Africans showed the lowest MHC-Alu diversity.

Conclusions: Genetic drift mainly associated to population bottlenecks seems to be reflected in the low MHC-Alu diversity of the Amerindians, mainly in Waorani. Geographical structuring of the haplotype distribution supports the efficiency of the MHC-Alu loci as lineage (ancestry) markers. The markedly low Alu diversity of African populations relative to other continental clusters suggests that these MHC-Alus might have arisen after the anatomically modern humans expanded out of Africa.
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http://dx.doi.org/10.1002/ajhb.22377DOI Listing
November 2013

Mitochondrial DNA control region data reveal high prevalence of Native American lineages in Jujuy province, NW Argentina.

Forensic Sci Int Genet 2013 May 20;7(3):e52-5. Epub 2013 Feb 20.

BIOMICs Research Group, Centro de Investigación Lascaray Ikergunea, Universidad del País Vasco (UPV/EHU), Vitoria-Gasteiz, Spain.

Mitochondrial control region (16024-576) sequences were generated from 180 individuals of four population nuclei from the province of Jujuy (NW Argentina), located at different altitudes above sea level. The frequency at which a randomly selected mtDNA profile would be expected to occur in the general population (random match probability) was estimated at 0.011, indicating a relatively high diversity. Analysis of the haplogroup distribution revealed that Native American lineages A2 (13.9%), B (56.7%), C1 (17.8%), D1 (8.9%) and D4h3a (1.1%) accounted for more than 98% of the total mtDNA haplogroup diversity in the sample examined. We detected a certain degree of genetic heterogeneity between two subpopulations located at different points along the altitudinal gradient (Valles and Puna), suggesting that altitude above sea level cannot be ruled out as a factor promoting divergences in mtDNA haplogroup frequencies, since altitude is closely associated with human living conditions, and consequently, with low demographic sizes and the occurrence of genetic drift processes in human communities. In all, mitochondrial DNA database obtained for Jujuy province strongly points to the need for creating local mtDNA databases, to avoid bias in forensic estimations caused by genetic substructuring of the populations.
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http://dx.doi.org/10.1016/j.fsigen.2013.01.007DOI Listing
May 2013

So close, so far away: analysis of surnames in a town of twins (Cândido Godói, Brazil).

Ann Hum Genet 2013 Mar 1;77(2):125-36. Epub 2013 Feb 1.

INAGEMP-Instituto Nacional de Genética Médica Populacional, Porto Alegre, Brazil.

Cândido Godói is a small Brazilian town known for high rates of twin birth. In 2011, a genetic study showed that this localized high rate of twin births could be explained by a genetic founder effect. Here we used isonymic analysis and surname distribution to identify population subgroups within 5316 inhabitants and 665 different surnames. Four clusters were constructed based on different twin rates (P < 0.001; MRPP test). Fisher's α and consanguinity index showed low and high values, respectively, corresponding with observed values in isolated communities with high levels of genetic drift. Values of A and B estimators confirmed population isolation. Three boundaries were identified with Monmonier's maximum difference algorithm (P = 0.007). Inside the isolated sections, surnames of different geographic origins, language, and religion were represented. With an adequate statistical methodology, surname analyses provided a close approximation of historic and socioeconomic background at the moment of colony settlement. In this context, the maintenance of social and cultural practices had strong implications for the population's structure leading to drift processes in this small town, supporting the previous genetic study.
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http://dx.doi.org/10.1111/ahg.12001DOI Listing
March 2013

[Infant mortality due to congenital malformations and socioeconomic status: the case of Argentina].

Rev Panam Salud Publica 2012 Jun;31(6):469-75

Área de Genética Médica y Poblacional, Servicio de Neonatología, Hospital General de Agudos Dr. José María Ramos Mejía, Buenos Aires, Argentina.

Objective: Compare the infant mortality rate due to congenital malformations ( IMRCM) and the percentage of deaths due to congenital malformations (%DCM) with sociodemographic and economic characteristics in Argentina.

Methods: The Argentine study population resided in 511 departments of 23 provinces, grouped into five geographic regions (Northwest, Northeast, Central, Cuyo, and Patagonia). The analyzed variables were the IMRCM and the %DCM calculated on the basis of births and deaths during 2002-2006 period. In addition, 21 variables were used from the 2001 Population and Housing Census (National Census and Statistics Institute of Argentina) to construct the Sociodemographic and Economic Indicator (SDEI) through the analysis of principal components. Comparison tests were carried out in order to assess the significant differences among the various regions and the correlations between indicators, and of these with the departmental latitudes and longitudes.

Results: There was no significant correlation between the IMRCM and the SDEI, nor with geographic coordinates. However, there was a significant positive correlation between the IMRCM and the SDEI (P < 0.05) at all levels of political organization. The SDEI explained 41% of the %DCM.

Conclusions: The IMRCM was not significantly associated with the country's marked socioeconomic heterogeneity; the highest %DCM values, on the other hand, were observed in the populations of the central and southern areas of the country. Given the relationship between the %DCM and socioeconomic development of the population, use of this indicator as a proxy of well-being and quality of life is suggested.
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http://dx.doi.org/10.1590/s1020-49892012000600004DOI Listing
June 2012

Are there population differences in minutiae frequencies? A comparative study of two Argentinian population samples and one Spanish sample.

Forensic Sci Int 2012 Oct 25;222(1-3):266-76. Epub 2012 Jul 25.

Departamento de Zoología y Antropología Física, Facultad de Biología, Universidad de Alcalá, Alcalá de Henares, Spain.

In recent years, both scientific and judicial sources have highlighted the need for more knowledge about minutiae variability, in order to improve their statistical application to fingerprint identification. In line with this trend toward improving our knowledge of this subject, the aim of the present study was to calculate the frequency with which 20 types of minutiae appeared in 2780 fingerprint impressions obtained from 278 individuals from two Argentinian population samples (100 individuals from Ramal and 178 from Puna-Quebrada). The different types of minutiae were located, identified, and quantified visually in two areas on the fingerprint, the inside and outside of a circle, the radius of which cut fifteen ridges perpendicularly, starting from the center cut of the axes defining the sectors. The non-equiprobability found in both population samples for the different minutiae types studied demonstrated that the evidential weight provided by these characteristics is not the same when applied in identification processes, whether used quantitatively (numerical standard) or qualitatively (holistic method). The results obtained for both populations were compared statistically with those published previously for a Spanish population sample, which had been collected using the same methodology. This comparison has enabled us to demonstrate, for the first time, the existence of significant differences between populations in minutiae frequencies, independently from the main pattern type.
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http://dx.doi.org/10.1016/j.forsciint.2012.07.003DOI Listing
October 2012

Microevolutionary processes due to landscape features in the province of Jujuy (Argentina).

Am J Hum Biol 2011 Mar-Apr;23(2):177-84. Epub 2010 Nov 10.

Departamento de Genética y Antropología Física, Facultad de Ciencia y Tecnología, Universidad del País Vasco, Bilbao, Spain.

Objectives: We seek to evaluate the influence of a diverse and rugged physical environment on the genetic background of human populations.

Methods: We analyzed eight polymorphic Alu insertions in 226 individuals from Jujuy province (Argentina), which is composed of several regions with well-defined geographical features and marked contrasts between them associated with differences in altitude (range: 700-3300 m). This regional division was used to assess the spatial variation of the Alu diversity.

Results: Deviations from Hardy-Weinberg Equilibrium expectations resulting from heterozygous deficit were found for FXIIIB and PV92 in the highest subpopulations. Several Alu elements showed genetic heterogeneity between the highest region (La Puna) and the lowest regions (Valle and Selva). Similarly, a decreasing trend of the average heterozygosity according to altitude was found. Both the centroid method and the admixture analysis unveiled a gene flow above the average in lowland populations, indicating a higher proportion of foreign genes introduced by immigrants of European and African ancestry. Furthermore, several Alu frequency clines fitting the orientation of the altitude gradient were detected.

Conclusions: Our study reveals a spatial patterning of the Alu diversity in Jujuy, most likely determined by disparities in landscape and environmental features between the different subregions. Differences in the physical environment would have drastically reduced the homogenizing effects of the gene flow and would have promoted genetic drift episodes in the highest subpopulations. Microevolutionary processes detected in Jujuy have played an important role in the shaping of the gene pool of the populations from this sub-Andean zone from Argentina.
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http://dx.doi.org/10.1002/ajhb.21098DOI Listing
April 2011

[Prevalence of malnutrition in institutionalized intellectually disabled patients].

Medicina (B Aires) 2011 ;71(1):1-8

Servicio de Genética, Hospital Colonia Nacional Dr. Manuel Montes de Oca, Provincia de Buenos Aires.

As patients with intellectual and developmental disability (ID) may be more exposed to unfavorable factors, they are at higher risk of suffering nutritional alterations. Our objective was to determine prevalence of malnutrition in institutionalized patients with ID. An evaluation of the nutritional status through determination of transversal anthropometric parameters of weight (kg) and height (cm) was made on 614 individuals (352 men and 262 women) institutionalized at Colonia Nacional Montes de Oca, Buenos Aires Province, Argentina. Body mass index and prevalence of underweight, overweight and obesity cases by sex and ID type: mild, moderate and severe intellectual disability were determined. Regardless of sex, prevalence of underweight, overweight and obesity were of 2.9%, 30% and 27.7%, respectively. Regardless of degree of ID, greater prevalence of obesity (41.2%) was found amongst women, while overweight (34.7%) was more frequent amongst men. Taking the degree of ID and regardless of sex, greater prevalence of underweight was observed in severe ID, and overweight and obesity amongst mild ID. No any of the patients with mild ID presented underweight. Taking into account sex and ID, higher prevalence of underweight and overweight were observed amongst men with mild ID, (7% and 38.4%, respectively) and of obesity in women with moderate ID (44%). Results obtained would indicate the importance of caloric intake and energy consumption control in adults with ID, paying particular attention to life conditions and alimentary disorders in terms of the degree of ID and their multiple associated disabilities.
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November 2011

Isonymy structure of Buenos Aires city.

Hum Biol 2009 Aug;81(4):447-61

Area Genética Médica, Hospital General de Agudos Dr. J. M. Ramos Mejia, General Urquiza 609, 1221 Ciudad de Buenos Aires, Argentina.

The isonymy structure of Buenos Aires was studied based on its surname frequency. Information on 2,552,359 voters of the 28 Buenos Aires districts was used to estimate Lasker's coefficient of relationship by isonymy (R(i)), surname diversity according to Fisher's alpha, the coefficient of consanguinity resulting from random isonymy (F), and Nei's, Lasker's and the Euclidean isonymy distances. These distances were correlated with geographic distances, which were calculated by assigning an arbitrary point to each district and measuring distances on a map of the city. The R(i) x 10(5) and F x 10(4) averages of the districts located south of Rivadavia Avenue were higher (R(i) = 66.08; F = 3.4) than those situated north of that avenue (R(i) = 46.60; F = 2.4) (p < 0.001). Fisher's alpha showed the opposite behavior (north, alpha = 1,055.5; south, alpha = 757.2). There was a significant correlation (p < 0.001) between geographic distance and Nei's and the Euclidean distances (0.496 and 0.503, respectively), but the correlation was not significant for Lasker's distance (0.051). These results indicate isolation by distance in the city of Buenos Aires and reveal subdivision of the metropolitan population, with greater consanguinity and a lesser variety of surnames in the districts located in the southern section of the city. This structure agrees with the fragmentation and social, cultural, and economic differences observed among the districts of this Latin American metropolis.
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http://dx.doi.org/10.3378/027.081.0404DOI Listing
August 2009

Brief communication: Restricted geographic distribution for Y-Q* paragroup in South America.

Am J Phys Anthropol 2009 Nov;140(3):578-82

Laboratorio de Genética Molecular Poblacional, Instituto Multidisciplinario de Biología Celular (IMBICE), CCT- CONICET-La Plata 1900, Argentina.

We analyzed 21 paragroup Q* Y chromosomes from South American aboriginal and urban populations. Our aims were to evaluate the phylogenetic status, geographic distribution, and genetic diversity in these groups of chromosomes and compare the degree of genetic variation in relation to Q1a3a haplotypes. All Q* chromosomes from our series and five samples from North American Q* presented the derivate state for M346, that is present upstream to M3, and determined Q1a3* paragroup. We found a restrictive geographic distribution and low frequency of Q1a3* in South America. We assumed that this low frequency could be reflecting extreme drift effects. However, several estimates of gene diversity do not support the existence of a severe bottleneck. The mean haplotype diversity expected was similar to that for South American Q1a3* and Q1a3a (0.478 and 0.501, respectively). The analysis of previous reports from other research groups and this study shows the highest frequencies of Q* for the West Corner and the Grand Chaco regions of South America. At present, there is no information on whether the phylogenetic status of Q* paragoup described in previous reports is similar to that of Q1a3* paragroup though our results support this possibility.
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http://dx.doi.org/10.1002/ajpa.21133DOI Listing
November 2009

Geographic altitude, surnames, and height variation of Jujuy (Argentina) conscripts.

Am J Phys Anthropol 2009 Feb;138(2):158-63

Instituto de Biología de la Altura, Universidad Nacional de Jujuy, San Salvador de Jujuy, Argentina.

The height records of 48,589 conscripts born in Jujuy between 1870 and 1960 were examined in order to study the variation in adult male height (AMH) in terms of geographical altitude and surnames. Data were clustered by origin of surnames (divided into native and foreign names), decades, and according to the four Jujenean geographical regions distributed along an altitudinal gradient (Puna, Quebrada, Valle, and Ramal). The variation of surnames, geographical altitude, and time on human height were examined by analysis of variance. Regardless of the drafting year, individuals in the four regions bearing foreign surnames proved significantly taller (P < 0.001) than those who had a native surname. Average height, regardless of ethnic group, presented a reverse relationship to geographical altitude. A higher AMH was found in individuals bearing foreign surnames in Jujuy and lower ones in the population located in the highlands and bearing native surnames. Interregional and intergroup AMH variations would be affected by the complex interaction between geographical altitude and factors associated to it and by the ethnic characteristics of these population as well.
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http://dx.doi.org/10.1002/ajpa.20915DOI Listing
February 2009

[Secular trend of birth weight in Argentina (1992-2002): a population based study].

Arch Argent Pediatr 2008 Jun;106(3):219-25

Consejo de Investigación en Salud, Maternidad Sardá, Buenos Aires.

Introduction: Birth weight (BW) is considered an important measure of the health status of a population. Objectives. 1) to assess secular trends in average BW, low birth weight (LBW,<2.500 g), very low birth weight (VLBW, < 1.500 g) and BW > or = 3.000 g of liveborn infants in Argentina; 2) calculate risks of LBW, VLBW and > or = 3.000 g; 3) influence of underreported birth weight.

Material And Methods: In this national-based study 7.113.931 liveborn infants born in Argentina from 1992 to 2002 were included. BW was assessed from the National Ministry of Public Health. Annuals mean BW and residual distribution (RD) following the Wilcox-Russell approach were calculated, and also LBW, VLBW and > or =3.000 g proportions.

Results: A decrease of 32 g in average BW (p= 0.577) and 24 g between 2000 and 2002 (p <0.001) was observed. RD reached 4%. The significant increase in LBW (12%, p= 0.034) and VLBW (26%, p= 0.002) proportions was paralleled by a reduction of 3.6% in BW > or =3.000 g (p= 0.011, average 75.2%). Risks of being LBW and VLBW were 1.13 (95% CI 1.12-1.15) and 1.30 (1.25-1.35), respectively; for BW > or =3.000 g was 0.86 (95% CI 0.85-0.87). No significant correlations between underreported BW and proportions of LBW (r= 0.10) or VLBW (r= 0.01) were observed.

Conclusion: A negative secular trends of BW was observed, all categories of LBW and VLBW were increased, BW > 3.000 g was diminished and under-reported BW did not influenced these results.
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http://dx.doi.org/10.1590/S0325-00752008000300006DOI Listing
June 2008

Geographic patterns of genome admixture in Latin American Mestizos.

PLoS Genet 2008 Mar 21;4(3):e1000037. Epub 2008 Mar 21.

The Galton Laboratory, Department of Biology, University College London, London, United Kingdom.

The large and diverse population of Latin America is potentially a powerful resource for elucidating the genetic basis of complex traits through admixture mapping. However, no genome-wide characterization of admixture across Latin America has yet been attempted. Here, we report an analysis of admixture in thirteen Mestizo populations (i.e. in regions of mainly European and Native settlement) from seven countries in Latin America based on data for 678 autosomal and 29 X-chromosome microsatellites. We found extensive variation in Native American and European ancestry (and generally low levels of African ancestry) among populations and individuals, and evidence that admixture across Latin America has often involved predominantly European men and both Native and African women. An admixture analysis allowing for Native American population subdivision revealed a differentiation of the Native American ancestry amongst Mestizos. This observation is consistent with the genetic structure of pre-Columbian populations and with admixture having involved Natives from the area where the Mestizo examined are located. Our findings agree with available information on the demographic history of Latin America and have a number of implications for the design of association studies in population from the region.
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http://dx.doi.org/10.1371/journal.pgen.1000037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2265669PMC
March 2008