Publications by authors named "Carla Maria Calò"

23 Publications

  • Page 1 of 1

From old markers to next generation: reconstructing the history of the peopling of Sardinia.

Ann Hum Biol 2021 May;48(3):203-212

Department of Life and Environmental Sciences, University of Cagliari, Cagliari, Italy.

Context: For many years the Sardinian population has been the object of numerous studies because of its unique genetic structure. Despite the extreme abundance of papers, various aspects of the peopling and genetic structure of Sardinia still remain uncertain and sometimes controversial.

Objective: We reviewed what has emerged from different studies, focussing on some still open questions, such as the origin of Sardinians, their relationship with the Corsican population, and the intra-regional genetic heterogeneity.

Methods: The various issues have been addressed through the analysis of classical markers, molecular markers and, finally, genomic data through next generation sequencing.

Results And Conclusions: Although the most ancient human remains date back to the end of the Palaeolithic, Mesolithic populations brought founding lineages that left evident traces in the modern population. Then, with the Neolithic, the island underwent an important demographic expansion. Subsequently, isolation and genetic drift contributed to maintain a significant genetic heterogeneity, but preserving the overall homogeneity on a regional scale. At the same time, isolation and genetic drift contributed to differentiate Sardinia from Corsica, which saw an important gene flow from the mainland. However, the isolation did not prevent gene flow from the neighbouring populations whose contribution are still recognisable in the genome of Sardinians.
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http://dx.doi.org/10.1080/03014460.2021.1944312DOI Listing
May 2021

Does the Intron 7 Gene Variant (rs4253778) Influence Performance in Power/Strength-Oriented Athletes? A Case-Control Replication Study in Three Cohorts of European Gymnasts.

J Hum Kinet 2021 Jul 28;79:77-85. Epub 2021 Jul 28.

Faculty of Physical Culture, Gdansk University of Physical Education and Sport, Gdansk, Poland.

Athletic ability is influenced by several exogenous and endogenous factors including genetic component. Hundreds of gene variants have been proposed as potential genetic markers associated with fitness-related phenotypes as well as elite-level athletic performance. Among others, variants within the PPARA gene that code for the peroxisome proliferator activated receptor α are of potential interest. The main goal of the present study was to determine PPARA (G/C, rs4253778) genotype distribution among a group of Polish, Lithuanian and Italian international level male gymnasts and to compare our findings with those of previous research on the frequency of the PPARA intron 7 C allele/CC genotype in power/strength-oriented athletes. A total of 464 male subjects (147 gymnasts and 317 controls) from Poland (n = 203), Italy (n = 146) and Lithuania (n = 107) participated in the study. No statistically significant differences were found in any of the analyzed cohorts. However, a significantly higher frequency of the CC genotype of the PPARA rs4253778 polymorphism was observed when all gymnasts were pooled and compared with pooled control using a recessive model of inheritance (OR = 3.33, 95% CI = 1.18-10, p = 0.022). It is important to know that we investigated a relatively small sample of male European gymnasts and our results are limited only to male participants. Thus, it is necessary to validate our results in larger cohorts of athletes of different ethnicities and also in female gymnasts to find out whether there is a gender effect.
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http://dx.doi.org/10.2478/hukin-2020-0060DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8336554PMC
July 2021

Estimating population genetics and forensic efficiency of the GlobalFiler PCR amplification kit in the population of Sardinia (Italy).

Gene 2021 Aug 11;794:145775. Epub 2021 Jun 11.

Dept. of Life and Environmental Sciences, University of Cagliari, 09042 Monserrato (Ca), Italy.

GlobalFiler is a new PCR amplification kit that includes 21 autosomal short tandem repeats and three sex-determining loci. In the present research, for the first time, the GlobalFiler kit was tested to analyze a sample of 500 unrelated individuals from 18 villages encompassing the entire area of Sardinia (Italy). We tested if the kit, which is a powerful tool in forensic studies, may also find application in the field of population genetics. In agreement with data from the literature on forensic parameters values, marker SE33 showed the highest degree of polymorphism, whereas TPOX was the least informative locus. Seventeen out of twenty-one autosomal markers included in the kit resulted highly polymorphic, and therefore Globalfiler turned out to be highly useful for forensic analysis in the Sardinian population. Moreover, our data suggest developing different STR databases in different populations, like Sardinians, to increase the statistical power of autosomal STR profiling. On the other hand, due to the presence of some very highly polymorphic markers, the efficiency of Globalfiler in detecting geographical variability is affected. Indeed, the differentiation previously observed between the Sardinian and Italian populations appeared greatly reduced and even the presence of genetic isolates, previously recorded when uniparental markers was not revealed.
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http://dx.doi.org/10.1016/j.gene.2021.145775DOI Listing
August 2021

Association between the ACE I/D polymorphism and muscle injuries in Italian and Japanese elite football players.

J Sports Sci 2020 Nov 2;38(21):2423-2429. Epub 2020 Jul 2.

Graduate School of Health and Sports Science, Juntendo University , Chiba, Japan.

ACE I/D polymorphism has been recently associated with the susceptibility to inflammation and muscle damage after exercise. The aim of this study was to understand the association between the I/D polymorphism and muscle injuries in a large cohort of elite football players from two different countries. Seven hundred and ten male elite football players from Italy (n = 341) and Japan (n = 369) were recruited for the study. Genomic DNA was extracted from either the buccal epithelium or saliva using a standard protocol. Structural-mechanical injuries and functional muscle disorders were recorded from 2009 to 2018. A meta-analysis was performed using Review Manager 5.3.5. In the Japanese cohort, the I/D polymorphism was significantly associated with muscle injury using the D-dominant model (OR: 0.48, 95% CI: 0.24-0.97, P = 0.040). The meta-analysis showed that in the pooled model (Italian and Japanese populations), the frequencies of the DD+ID genotypes were significantly lower in the injured groups than in non-injured groups (OR: 0.61, 95% CI: 0.38-0.98, P = 0.04) with a low degree of heterogeneity (  = 0%). Our findings suggest that the I/D polymorphism could influence the susceptibility to developing muscle injuries among football players.
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http://dx.doi.org/10.1080/02640414.2020.1787683DOI Listing
November 2020

Allele frequency and forensic efficiency of 15 autosomal STR loci in the Sardinian population (Italy).

Forensic Sci Int Genet 2019 07 21;41:e26-e29. Epub 2019 Apr 21.

Dipartimento di Scienze della Vita e dell'Ambiente, Università degli Studi di Cagliari, Italy.

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http://dx.doi.org/10.1016/j.fsigen.2019.04.002DOI Listing
July 2019

Analysis of uniparental markers reveals a complex pattern of migration within Sardinia.

Ann Hum Biol 2018 Jun;45(4):354-358

b Department of Life and Environment Sciences , University of Cagliari , Monserrato , Italy.

Background: From the genetic viewpoint, Sardinia is well differentiated from other surrounding populations. In spite of a common ancestral origin, substantial genetic heterogeneity is observed within the island. Matrimonial pattern, as well as past migration movements, may account for the complex genetic structure of Sardinia.

Aim: To compare data from uniparental markers in order to highlight the migration pattern of male and female lineages and check their congruence with the demographic data.

Subjects And Methods: Genomic DNA was obtained from 279 unrelated males selected from three isolated villages and from three open populations representative of North, Central and South Sardinia. The hypervariable region 1 of mtDNA was sequenced and 17 Y-chromosome loci were genotyped. Parameters of within and among populations diversity were calculated and analysis of migration was performed.

Results: When analysed as a whole population, demographic data show a balanced movement of males and females in Sardinia, unlike other Italian and European populations. Remarkably, when the island is divided into geographic areas, different migration patterns are clearly recognisable. Whereas North and Central Sardinia populations show a stronger male migration rate, the South Sardinia population shows a stronger female migration rate.

Conclusion: Distinct migration patterns of male and female lineages affect the areas investigated differently. These past migration movements are major contributors to the complex genetic structure currently observed in the Sardinian population.
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http://dx.doi.org/10.1080/03014460.2018.1489559DOI Listing
June 2018

Association of Monocarboxylate Transporter-1 (MCT1) A1470T Polymorphism (rs1049434) with Forward Football Player Status.

Int J Sports Med 2018 Dec 5;39(13):1028-1034. Epub 2018 Oct 5.

Department of Life and Environmental Sciences, University of Cagliari, Monserrato, Italy.

The aim of this study was to investigate the association between the (monocarboxylate transporter 1) A1470T polymorphism and positional roles in a large cohort of professional football players from five different countries. We compared genotype distributions of the A1470T polymorphism between football players (n=694) and non-athlete controls (n=781) from Italy, Poland, Lithuania, Ukraine and Malta, and we analyzed the genotype distributions with respect to the players' positions in the field (e. g. forwards, midfielders, defenders and goalkeepers). Genomic DNA was extracted from either buccal epithelium or peripheral blood using a standard protocol. In the pooled cohort of Italian, Polish, Lithuanian and Ukrainian football players, forwards (n=148) were more likely than controls (n=781) to possess the A allele (χ2=7.067, p=0.029, FDR q value 0.116), with a greater likelihood of having the AA genotype compared with the TT genotype (OR=1.97; C.I.=1.07-3.64; p=0.021, FDR q value 0.086). The MCT1 AA genotype was significantly more frequent in forwards then in controls. Further studies are needed to confirm these findings in other professional football player cohorts.
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http://dx.doi.org/10.1055/a-0634-6387DOI Listing
December 2018

No association between ACTN3 R577X and ACE I/D polymorphisms and endurance running times in 698 Caucasian athletes.

BMC Genomics 2018 01 3;19(1):13. Epub 2018 Jan 3.

Institute of Sport, Exercise and Active Living (ISEAL), Victoria University, Victoria, Australia.

Background: Studies investigating associations between ACTN3 R577X and ACE I/D genotypes and endurance athletic status have been limited by small sample sizes from mixed sport disciplines and lack quantitative measures of performance.

Aim: To examine the association between ACTN3 R577X and ACE I/D genotypes and best personal running times in a large homogeneous cohort of endurance runners.

Methods: We collected a total of 1064 personal best 1500, 3000, 5000 m and marathon running times of 698 male and female Caucasian endurance athletes from six countries (Australia, Greece, Italy, Poland, Russia and UK). Athletes were genotyped for ACTN3 R577X and ACE ID variants.

Results: There was no association between ACTN3 R577X or ACE I/D genotype and running performance at any distance in men or women. Mean (SD) marathon times (in s) were for men: ACTN3 RR 9149 (593), RX 9221 (582), XX 9129 (582) p = 0.94; ACE DD 9182 (665), ID 9214 (549), II 9155 (492) p = 0.85; for women: ACTN3 RR 10796 (818), RX 10667 (695), XX 10675 (553) p = 0.36; ACE DD 10604 (561), ID 10766 (740), II 10771 (708) p = 0.21. Furthermore, there were no associations between these variants and running time for any distance in a sub-analysis of athletes with personal records within 20% of world records.

Conclusions: Thus, consistent with most case-control studies, this multi-cohort quantitative analysis demonstrates it is unlikely that ACTN3 XX genotype provides an advantage in competitive endurance running performance. For ACE II genotype, some prior studies show an association but others do not. Our data indicate it is also unlikely that ACE II genotype provides an advantage in endurance running.
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http://dx.doi.org/10.1186/s12864-017-4412-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5753575PMC
January 2018

ACTN3 R577X and ACE I/D gene variants influence performance in elite sprinters: a multi-cohort study.

BMC Genomics 2016 Apr 13;17:285. Epub 2016 Apr 13.

Institute of Sport, Exercise and Active Living (ISEAL), Victoria University, Victoria, 8001, Australia.

Background: To date, studies investigating the association between ACTN3 R577X and ACE I/D gene variants and elite sprint/power performance have been limited by small cohorts from mixed sport disciplines, without quantitative measures of performance.

Aim: To examine the association between these variants and sprint time in elite athletes.

Methods: We collected a total of 555 best personal 100-, 200-, and 400-m times of 346 elite sprinters in a large cohort of elite Caucasian or African origin sprinters from 10 different countries. Sprinters were genotyped for ACTN3 R577X and ACE ID variants.

Results: On average, male Caucasian sprinters with the ACTN3 577RR or the ACE DD genotype had faster best 200-m sprint time than their 577XX (21.19 ± 0.53 s vs. 21.86 ± 0.54 s, p = 0.016) and ACE II (21.33 ± 0.56 vs. 21.93 ± 0.67 sec, p = 0.004) counterparts and only one case of ACE II, and no cases of ACTN3 577XX, had a faster 200-m time than the 2012 London Olympics qualifying (vs. 12 qualified sprinters with 577RR or 577RX genotype). Caucasian sprinters with the ACE DD genotype had faster best 400-m sprint time than their ACE II counterparts (46.94 ± 1.19 s vs. 48.50 ± 1.07 s, p = 0.003). Using genetic models we found that the ACTN3 577R allele and ACE D allele dominant model account for 0.92 % and 1.48 % of sprint time variance, respectively.

Conclusions: Despite sprint performance relying on many gene variants and environment, the % sprint time variance explained by ACE and ACTN3 is substantial at the elite level and might be the difference between a world record and only making the final.
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http://dx.doi.org/10.1186/s12864-016-2462-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4831144PMC
April 2016

Geographic population structure analysis of worldwide human populations infers their biogeographical origins.

Nat Commun 2014 Apr 29;5:3513. Epub 2014 Apr 29.

Department of ecology and evolutionary biology, University of Arizona, Tucson, Arizona 85721, USA.

The search for a method that utilizes biological information to predict humans' place of origin has occupied scientists for millennia. Over the past four decades, scientists have employed genetic data in an effort to achieve this goal but with limited success. While biogeographical algorithms using next-generation sequencing data have achieved an accuracy of 700 km in Europe, they were inaccurate elsewhere. Here we describe the Geographic Population Structure (GPS) algorithm and demonstrate its accuracy with three data sets using 40,000-130,000 SNPs. GPS placed 83% of worldwide individuals in their country of origin. Applied to over 200 Sardinians villagers, GPS placed a quarter of them in their villages and most of the rest within 50 km of their villages. GPS's accuracy and power to infer the biogeography of worldwide individuals down to their country or, in some cases, village, of origin, underscores the promise of admixture-based methods for biogeography and has ramifications for genetic ancestry testing.
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http://dx.doi.org/10.1038/ncomms4513DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4007635PMC
April 2014

Linguistic, geographic and genetic isolation: a collaborative study of Italian populations.

J Anthropol Sci 2014 3;92:201-31. Epub 2014 Mar 3.

Istituto di Scienze Neurologiche, CNR, Mangone, Cosenza, Italy.

The animal and plant biodiversity of the Italian territory is known to be one of the richest in the Mediterranean basin and Europe as a whole, but does the genetic diversity of extant human populations show a comparable pattern? According to a number of studies, the genetic structure of Italian populations retains the signatures of complex peopling processes which took place from the Paleolithic to modern era. Although the observed patterns highlight a remarkable degree of genetic heterogeneity, they do not, however, take into account an important source of variation. In fact, Italy is home to numerous ethnolinguistic minorities which have yet to be studied systematically. Due to their difference in geographical origin and demographic history, such groups not only signal the cultural and social diversity of our country, but they are also potential contributors to its bio-anthropological heterogeneity. To fill this gap, research groups from four Italian Universities (Bologna, Cagliari, Pisa and Roma Sapienza) started a collaborative study in 2007, which was funded by the Italian Ministry of Education, University and Research and received partial support by the Istituto Italiano di Antropologia. In this paper, we present an account of the results obtained in the course of this initiative. Four case-studies relative to linguistic minorities from the Eastern Alps, Sardinia, Apennines and Southern Italy are first described and discussed, focusing on their micro-evolutionary and anthropological implications. Thereafter, we present the results of a systematic analysis of the relations between linguistic, geographic and genetic isolation. Integrating the data obtained in the course of the long-term study with literature and unpublished results on Italian populations, we show that a combination of linguistic and geographic factors is probably responsible for the presence of the most robust signatures of genetic isolation. Finally, we evaluate the magnitude of the diversity of Italian populations in the European context. The human genetic diversity of our country was found to be greater than observed throughout the continent at short (0-200 km) and intermediate (700-800km) distances, and accounted for most of the highest values of genetic distances observed at all geographic ranges. Interestingly, an important contribution to this pattern comes from the "linguistic islands"( e.g. German speaking groups of Sappada and Luserna from the Eastern Italian Alps), further proof of the importance of considering social and cultural factors when studying human genetic variation.
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http://dx.doi.org/10.4436/JASS.92001DOI Listing
February 2015

Analysis of 16 STRs of NOS gene regions and around in six Sardinian populations (Italy).

Am J Hum Biol 2014 May-Jun;26(3):401-6. Epub 2014 Feb 27.

Department of Science of Life and Environment, University of Cagliari, Monserrato, 09042, Italy.

Objectives: The aims of this work are to provide first data on novel STRs at the NOS gene regions in human populations and to test for possible correlations with mortality rate by malaria in different areas of Sardinia (Italy).

Methods: In the present study, 16 STRs (13 analyzed for the first time in human populations) localized on three genes NOS were typed in 213 healthy individuals, unrelated for at least three generations, from six historical-geographical Sardinian areas. STRs alleles were determined through sequencing. Statistical analyses were performed by Genepop (v.4.0), Arlequin (v.3.5.1.2), R (v.2.15.1), Statistica (v.5.1), and PHASE (v.2.1) software packages.

Results: The number of alleles found for each locus ranged from 2 to 12 and their distribution is most often unimodal. All populations met Hardy Weinberg equilibrium after Bonferroni correction, with few exceptions. Analysis of genetic distances did not show strong genetic structuring of the investigated populations. Instead, the population genetic variability shows a positive and highly significant (P-value < 0.01) correlation between mortality determined by malaria infection and alleles (TGGA)7 of NOS2, (AAAAG)2 and (ATTT)10 of adNOS1, and (AAACA)11 of adNOS3 genes.

Conclusions: The peculiar allele distribution found for several NOS alleles could be due to malaria infection that may have contributed to their frequencies, but we cannot exclude that the peculiar allele distribution of NOS might also be due to genetic drift, emphasized by isolation and founder effect.
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http://dx.doi.org/10.1002/ajhb.22533DOI Listing
December 2014

Effects of drinking supplementary water at school on cognitive performance in children.

Appetite 2012 Dec 24;59(3):730-7. Epub 2012 Jul 24.

Department of Pedagogy, Psychology and Philosophy, University of Cagliari, via Is Mirrionis 1, 09123 Cagliari, Italy.

We investigated the beneficial effects of drinking supplementary water during the school day on the cognitive performance and transitory subjective states, such as fatigue or vigor, in 168 children aged between 9 and 11years who were living in a hot climate (South Italy, Sardinia). The classes were randomly divided into an intervention group, which received water supplementation, and a control group. Dehydration was determined by urine sampling and was defined as urine osmolality greater than 800mOsm/kg H(2)O (Katz, Massry, Agomn, & Toor, 1965). The change in the scores from the morning to the afternoon of hydration levels, cognitive performance and transitory subjective states were correlated. In line with a previous observational study that evaluated the hydration status of school children living in a country with a hot climate (Bar-David, Urkin, & Kozminsky, 2005), our results showed that a remarkable proportion of children were in a state of mild, voluntary dehydration at the beginning of the school day (84%). We found a significant negative correlation between dehydration and the auditory number span, which indicates a beneficial effect of drinking supplementary water at school on short-term memory. Moreover, there was a positive correlation between dehydration and performance in the verbal analogy task. The results are discussed in the light of the complexity of the neurobiological mechanisms involved in the relationship between hydration status and cognition.
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http://dx.doi.org/10.1016/j.appet.2012.07.005DOI Listing
December 2012

Genome-wide scan with nearly 700,000 SNPs in two Sardinian sub-populations suggests some regions as candidate targets for positive selection.

Eur J Hum Genet 2012 Nov 25;20(11):1155-61. Epub 2012 Apr 25.

Department of Experimental Biology, University of Cagliari, Cittadella Universitaria, Monserrato, Cagliari, Italy.

This paper explores the genetic structure and signatures of natural selection in different sub-populations from the Island of Sardinia, exploiting information from nearly 700,000 autosomal SNPs genotyped with the Affymetrix Genome-Wide Human SNP 6.0 Array. The genetic structure of the Sardinian population and its position within the context of other Mediterranean and European human groups were investigated in depth by comparing our data with publicly available data sets. Principal components and admixture analyses suggest a clustering of the examined samples in two significantly differentiated sub-populations (Ogliastra and Southern Sardinia), as confirmed by AMOVA (F(ST)=0.011; P<0.001). Differentiation of these sub-populations was still evident when they were pooled together with supplementary Sardinian samples from HGDP and compared with several other European, North-African and Near Eastern populations, confirming the uniqueness of the Sardinian genetic background. Moreover, by applying several statistical approaches aimed at assessing differences at the SNP level, the highest differentiated genomic regions between Ogliastra and Southern Sardinia were thus investigated via an extended haplotype homozygosity (EHH)-based test to point out potential selective sweeps. Using this approach, 40 genomic regions were detected, with significant differences between Ogliastra and Southern Sardinia. These regions were subsequently investigated using a long-range haplotype test, which found significant REHH values for SNPs rs11070188 and rs11070192 in the Ogliastra sub-population. In the light of these results and the overlap of the different computed statistics, the region encompassing these loci can be considered a strong candidate to have undergone selective pressure in Ogliastra.
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http://dx.doi.org/10.1038/ejhg.2012.65DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3476709PMC
November 2012

Sampling strategies in a linguistic isolate: results from mtDNA analysis.

Am J Hum Biol 2012 Mar-Apr;24(2):192-4. Epub 2012 Jan 27.

Department of Experimental Biology, University of Cagliari, 09042 Monserrato, Italy.

Objectives: Sampling strategies are crucial issues in population genetics and anthropological studies. The sampling choice is related to the research question and the type of markers used. In this research, we compared two different sampling strategies in the Sardinian linguistic isolate of Carloforte (Italy).

Methods: A first sampling (N = 49) was carried out through grandparents criterion: individuals selected for the study were born and resident in Carloforte, and unrelated for at least three generations. A second sampling (N = 50) was based on founders surnames (FS): selected participants were proved to be descendants of the village founders, and to have no ancestors in common, at least up to the grandparental generation.

Results: The group selected through FS showed a greater gene diversity, which was confirmed by both network and haplogroup analysis. Among the shared haplogroups, we find clear differences in their frequencies. Sampling through grandparents criterion showed essentially the same haplogroups found in Sardinia, and with similar frequencies. Interesting results came from genetic tree. The FS sampling clustered with Northern African populations and it is located very far from Italian and Sardinian populations, whereas the grandparents criterion sampling clustered with Italian populations and it is located close to the other Sardinian populations.

Conclusions: Results showed that different sampling strategies can lead to contrasting results. As sampling through grandparents criterion is influenced by recent gene flow, we hypothesize that the difference observed with the two sampling strategies is due to the merging of Carloforte with Sardinian populations.
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http://dx.doi.org/10.1002/ajhb.22215DOI Listing
April 2012

Energy expenditure during competitive Latin American dancing simulation.

Med Probl Perform Art 2011 Dec;26(4):206-10

Dept. of Experimental Biology, University of Cagliari, Monserrato, Italy.

Unlabelled: The aims of this study were to estimate the energy expenditure (EE) and the intensity of physical activity (PA) during a competitive simulation of Latin American dancing and to evaluate the differences in PA and EE values between the sexes, between different dance types, and between the various phases of the competition.

Methods: Ten Italian dancers (five couples, 5 males and 5 females) competing in Latin American dancing at the international level were examined in this study. The EE (kcal) was measured during the semifinal and final phases of the competition using the SenseWear Pro Armband (SWA). Paired-sample t-tests were used to determine differences in the metabolic equivalent (MET) and EE values between the semifinal and final phases and between each dance. One-way analysis of variance was used to analyze the differences in the MET and EE values between the sexes.

Results: The intensity of PA during the dance sequence ranged from moderate (3 to 6 METs) to vigorous (6 to 9 METs). The male dancers had higher EE values than the female dancers during all phases of the simulation. Similar MET values were observed in both sexes. The PA intensity during the finals phase was vigorous for 56% of the time of dance. Of all the dance styles, the rumba had the lowest MET and EE values.

Conclusion: Our results demonstrate that competitive Latin American dancing is a heavy exercise and suggest that monitoring variables during normal training can improve training protocols and the dancers' fitness levels.
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December 2011

A gradient of NOS1 overproduction alleles in European and Mediterranean populations.

Genet Test Mol Biomarkers 2010 Oct 6;14(5):673-6. Epub 2010 Sep 6.

Faculty of Science, University of Corsica, Corsica, France.

Aim: A (CA)n repeat located in the 3' UTR region of exon 29 of the NOS1 gene (encoding for neuronal nitric oxide synthase) has been shown to affect the size of mRNA. NOS1 mRNA is highly diverse, contributing to changes in transcript generation, degradation, processing, or subcellular targeting. In the present work, we analyzed allele frequencies of this (CA)n repeat in nine populations of the Mediterranean area and Middle Europe. We aimed at testing the presence of a north-south positive gradient of frequencies of ≤17 allele repeats, compatible with the hypothesis of positive selection suggested in two of our previous works, related to the past prevalence of malaria infection in Europe.

Results: Results show significant negative correlations of latitude with frequencies of alleles S and genotypes S/S and S/L (p < 0.01).

Conclusions: In conclusion, the north-south gradient of S alleles found in the present work would confirm our previous observation about the NOS1 gene, reinforcing the hypothesis of a selective action of malaria infection. This hypothesis is strengthened by the role of nitric oxide in the immunity system.
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http://dx.doi.org/10.1089/gtmb.2010.0041DOI Listing
October 2010

Population data for Y-chromosome haplotypes defined by AmpFlSTR YFiler PCR amplification kit in North Sardinia (Italy).

Coll Antropol 2009 Jun;33(2):643-51

Section of Anthropology, Department of Experimental Biology, University of Cagliari, Monserrato-Cagliari, Italy.

The 17 Y-chromosomal short tandem repeats (STRs) included in the AmpFlSTR YFiler Amplification Kit (AB Applied Biosystems) (DYS19, DYS3891, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635 and GATA H4.1) were typed in 100 samples from North Sardinia (Italy). A total of 91 different haplotypes were found, where 9 haplotypes were shared by two individuals. The overall haplotype diversity (HD) was 0.9982. DYS458 non-consensus alleles were found in one samples, and one in the DYS438. We found a double peak in one sample for the DYS19 with alleles 15/16. Population comparisons with available 10 YSTR loci data in Mediterranean Basin samples were undertaken, significant differences were observed between our sample and all the compared populations, except for a entire sample from Sardinia. Prediction of haplogroups showed I2al was found to be the most frequent haplogroup (33%) in our sample. Testing high-resolution Y-chromosome data sets it is useful in autochthonous population and micro-population studies to highlight the most informative loci for evolutionary aims.
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June 2009

Human CHIT1 gene distribution: new data from Mediterranean and European populations.

J Hum Genet 2007 15;52(2):110. Epub 2006 Nov 15.

Department of Experimental Biology, University of Cagliari, SS 554, km 4,500, 09042, Monserrato (CA), Italy.

A 24 bp duplication in the CHIT1 gene (H allele) is associated with a deficiency in the activity of chitotriosidase, an enzyme with the capability to hydrolyse chitin. A recent study in European and two sub-Saharan populations suggested a relationship between the presence of the mutation, improved environmental conditions, and the disappearance of parasitic diseases, including Plasmodium falciparum malaria. This result was not supported by the high frequency of the 24 bp duplication in a sample from Taiwan, an area with high malaria endemicity until 40 years ago. In this study, we analysed the frequency variability of the H allele in Mediterranean populations and its internal variability in Sardinia (Italy) with respect to malaria, which had been endemic on the island until its eradication during 1946-1950. The pattern of H frequency distributions is not consistent with the hypothesis of selective pressures acting on CHIT1 gene. The Moran's index coefficient and correlogram seem to indicate, indeed, that allele distribution was determined by random factors. The pattern of frequency distribution suggests a possible Asiatic origin of the H allele, but it could be possible also that the mutant allele had diffused out of Africa, and was subsequently lost from African populations.
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http://dx.doi.org/10.1007/s10038-006-0086-1DOI Listing
March 2007

Genetic history of some western Mediterranean human isolates through mtDNA HVR1 polymorphisms.

J Hum Genet 2006 24;51(1):9-14. Epub 2005 Nov 24.

Department of Human Genetics, Faculty of Science, University of Corsica, BP 52, 20250, Corte, Corsica, France.

The existence of a genetic gradient across continents has often been highlighted. Comparisons among several genetic markers have suggested that most genes of current Europeans are descended from the Near East. During the Paleolithic period, populations were confined in refuges by the last glaciation. At the end of the Paleolithic period, European migrations began from these refuges. Our objective was to highlight these various flows, starting from well-defined isolated populations, originating mainly from western Mediterranean islands. We investigated polymorphisms in the hypervariable 1 (HVR1) zone of mitochondrial DNA (mtDNA) in many Mediterranean isolates: Andalusia, Balearic Islands, southern Corsica, Morocco, Sant' Antioco Island, San Pietro Island, Gallura, Nuoro and Trexenta (Sardinia) and Tuscany. We have compared our findings with those from other Mediterranean populations. Occupation of the Mediterranean area from the Middle East began in the Upper Paleolithic period around 40,000 years ago, with a population diversity determined by geographical and historical factors. Of the isolates studied, the population of the Balearic Islands show genetic characteristics correlated with various European flows initiated about 5,000 years ago. The island of San Pietro, in southwest Sardinia, still preserves the genetic traces of settlement by Ligurian migrants in 1736.
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http://dx.doi.org/10.1007/s10038-005-0324-yDOI Listing
March 2006

A pentanucleotide repeat polymorphism (TTTTA) in the apolipoprotein (a) gene--its distribution and its association with the risk of cardiovascular disease.

Coll Antropol 2003 Jun;27(1):105-15

Department of Experimental Biology, Section of Anthropological Sciences, University of Cagliari, Monserrato, Italy.

Apolipoprotein (a) is a component of lipoprotein (a). Several studies have shown the association between risk of coronary heart diseases and the size of apo(a) isoforms, although this issue is still controversial. Recent researches focused the attention on the pentanucleotide (TTTTA), highlighting a statistical correlation between low Lp(a) levels and high repeat numbers. In the present paper we studied the distribution of the apo(a) pentanucleotide polymorphism among populations from Corsica, and we then compared it with other populations from Europe, Africa and Asia. The results stressed out the usefulness of these markers in population genetics analysis. We later investigated the possible association of the apo(a) pentanucleotide polymorphism with serum lipid levels in two samples from Corsica (France): one comprises patients or individuals with high risk of future coronary heart disease and the other is a control sample. No significant differences between the two groups have been found, but the analysis of variance showed a significant association between different genotypes and cholesterol and LDL serum levels.
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June 2003
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