Search Our Scientific Publications & Authors

Ann Hum Genet 2019 Feb 19. Epub 2019 Feb 19.

Department of Biological Sciences, BITS Pilani, Hyderabad Campus, Hyderabad, 500078, India.

Copy number variants (CNVs) of 15q11.2 yielded conflicting reports on their association with schizophrenia (SZ), indicating the need for replication studies. Because there are no 15q11. Read More

Ann Hum Genet 2019 Feb 15. Epub 2019 Feb 15.

Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.

Genomic regions of homozygosity (ROH), detectable in outbred populations, have been implicated as determinants of inherited risk. To examine whether ROH is associated with risk of multiple myeloma (MM), we performed whole-genome homozygosity analysis using single-nucleotide polymorphism genotype data from 2,282 MM cases and 5,197 controls, with replication in an additional 878 MM cases and 7,083 controls. Globally, the distribution of ROH between cases and controls was not significantly different. Read More

Ann Hum Genet 2019 Feb 7. Epub 2019 Feb 7.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.

Multiple osteochondromas (MOs) or hereditary multiple exostoses is a rare autosomal-dominant disease characterized by growths of MOs, which are benign cartilage-capped bone tumors that grow away from the growth plates. Almost 90% of MOs have a molecular explanation and 10% are unexplained. MOs are genetically heterogeneous with two causal genes on 8q24. Read More

Ann Hum Genet 2019 Feb 7. Epub 2019 Feb 7.

Department of Clinical Immunology, School of Medicine, Ankara University, Ankara, Turkey.

Background: Behçet's disease (BD) is an inflammatory disorder characterized by oral aphthous lesions, uveitis, and genital ulcerations. The vitamin D receptor (VDR) has a crucial role in the pathogenesis of this disease because it mediates the functions of vitamin D in the immune system. Alterations of VDR expression related to polymorphic alleles of the VDR gene may play a pathogenic role in BD and BD's clinical presentations. Read More

Ann Hum Genet 2019 Feb 4. Epub 2019 Feb 4.

Division of Physiology, Department of Medicine, University of California, San Diego, La Jolla, California.

EGLN1 encodes the hypoxia-inducible factor (HIF) pathway prolyl hydroxylase 2 (PHD2) that serves as an oxygen-sensitive regulator of HIF activity. The EGLN1 locus exhibits a signature of positive selection in Tibetan and Andean populations and is associated with hemoglobin concentration in Tibetans. Recent reports provide evidence for functional roles of protein-coding variants within the first exon of EGLN1 (rs186996510, rs12097901) that are linked to an adaptive signal in Tibetans, yet whether these same variants are present and contribute to adaptation in Andean highlanders is unknown. Read More

Ann Hum Genet 2019 Jan 30. Epub 2019 Jan 30.

Fundação Oswaldo Cruz, Centro de Pesquisas Gonçalo Moniz - Fiocruz/BA, 40296710, Salvador, Bahia, Brazil.

Sickle cell anemia is one of the most prevalent genetic diseases worldwide, showing great clinical heterogeneity. This study compared the gene expression patterns between sickle cell anemia pediatric patients in steady state and in crisis state, as compared to age-paired, healthy individuals. RNA sequencing was performed from these groups of patients/controls using Illumina HiSeq 2500 equipment. Read More

Ann Hum Genet 2019 Jan 15. Epub 2019 Jan 15.

Departmento de Lenguajes y Sistemas Informáticos, Higher Technical School of Computer Engineering, University of Seville, Seville, Spain.

Background And Objective: The major difficulty of the analysis of the input gene expression data in a microarray-based approach for an automated diagnosis of cancer is the large number of genes (high dimensionality) with many irrelevant genes (noise) compared to the very small number of samples. This research study tackles the dimensionality reduction challenge in this area.

Methods: This research study introduces a dimension-reduction technique termed graph coloring approach (GCA) for microarray data-based cancer classification based on analyzing the absolute correlation between gene-gene pairs and partitioning genes into several hubs using graph coloring. Read More

Ann Hum Genet 2019 Mar 22;83(2):82-85. Epub 2018 Nov 22.

Molecular Biology Laboratory, Faculty of Health Sciences, American University of Science and Technology, Beirut, Lebanon.

Population representative short tandem repeat (STR) allele frequencies are crucial for proper probabilistic interpretation of DNA forensic evidence. STR allele frequencies also provide information about the genetic diversity of a given population. The Lebanese population is characterized by the presence of more than 18 religious communities that have high recorded rates of endogamous and consanguineous marriages, where the choice of marriages is mainly influenced by their respective geographical distributions and religious affiliation. Read More

Ann Hum Genet 2018 Dec 2. Epub 2018 Dec 2.

Department of Gastroenterology, Rizhao People's Hospital of Shandong Province, Rizhao, 276800, China.

Objective: To investigate the correlation of tumor necrosis factor α (TNF-α) polymorphisms with upper gastrointestinal bleeding (UGIB) induced by enteric-coated aspirin in coronary heart disease (CHD) patients.

Methods: In total, 154 CHD patients taking enteric-coated aspirin were enrolled in this study. Patients were divided into the UGIB group (n = 57) and non-UGIB group (n = 97) based on the presence or absence of signs of UGIB, respectively. Read More

Ann Hum Genet 2018 Dec 2. Epub 2018 Dec 2.

School of Forensic Medicine, China Medical University, Shenyang, 110122, China.

Background: China harbors 56 ethnic groups, including Korean, with a population size of approximately 1.92 million at the 2010 census. Most of the Koreans live in Northeastern parts of China, including Jilin (59. Read More

Ann Hum Genet 2019 Mar 6;83(2):86-94. Epub 2018 Nov 6.

Laboratorio de Investigación en Genética de Enfermedades Complejas, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Hospital Clínico San Carlos, Madrid, Spain.

Autoimmune diseases like celiac disease (CeD) and ulcerative colitis (UC) show a common genetic background defined by the existence of shared susceptibility loci. We aimed to go deeper into this common genetic background through performing a cross-disease study based on gene expression. We measured the expression of 21 genes located in 13 CeD-UC susceptibility regions, and 10 genes in five CeD risk regions. Read More

Ann Hum Genet 2018 Nov 6. Epub 2018 Nov 6.

Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.

The child with global developmental delay (GDD)/intellectual disability (ID) is deserving of the appropriate evaluation available for improving the health and well-being of patients and their families. To better elucidate the diagnostic approach of genetic tests for patients with GDD and/or ID, we evaluated the results in a cohort of 75 patients with clinical features of GDD and/or ID who were referred for diagnostic workup. A total of 75 children were investigated for GDD or ID in the pediatric neurology department. Read More

Ann Hum Genet 2019 Mar 10;83(2):110-114. Epub 2018 Oct 10.

Laboratory of Immunogenetics, Department of Basic Health Sciences, Maringa State University (UEM), Parana, Brazil.

We evaluated the influence of the IL8 T-738A (nonidentified rs), IL8 T-353A (rs4073), IL17A G197A (rs2275913), and IL17F T7488C (rs763780) single-nucleotide polymorphisms on leprosy. The AA genotype of IL8 T-353A was observed as a risk factor for multibacillary leprosy, regardless of gender and age-of-onset of disease, considering the recessive model (OR, 3.8; 95% CI, 1. Read More

Ann Hum Genet 2019 Mar 10;83(2):100-109. Epub 2018 Oct 10.

Medical Genetics Department, Bambino Gesù Children's Hospital, Rome, Italy.

Cornelia de Lange syndrome (CdLS) is a genetically and clinical heterogeneous condition characterized by congenital malformation, intellectual disability, and peculiar dysmorphic features. Recently, BRD4 (19p13.12) was proposed as a new critical gene associated with a mild CdLS because of a similar presentation of the patients carrying point mutations and of its involvement in the NIPBL pathway. Read More

Ann Hum Genet 2019 Mar 2;83(2):95-99. Epub 2018 Oct 2.

Department of Cell Biology, School of Life Sciences, Central South University, Changsha, China.

Dilated cardiomyopathy (DCM) is a relatively frequent myocardial disease that may lead to heart failure, syncope, and sudden cardiac death. Genetic factors play important roles in the etiology of the disease. To date, at least 50 genes have been identified in patients with DCM, among them, only three mutations have been reported in Synemin (SYNM) gene. Read More

Ann Hum Genet 2019 Jan 27;83(1):11-22. Epub 2018 Sep 27.

Research Department of Genetics, Evolution and Environment, University College London, Darwin Building, Gower Street, London, WC1E 6BT, United Kingdom.

The genetic trait of lactase persistence (LP) evolved as an adaptation to milking pastoralism in the Old World and is a well-known example of positive natural selection in humans. However, the specific mechanisms conferring this selective advantage are unknown. To understand the relationship between milk drinking, LP, growth, reproduction, and survival, communities of the Coquimbo Region in Chile, with recent adoption of milking agropastoralism, were used as a model population. Read More

Ann Hum Genet 2019 Jan 7;83(1):54-62. Epub 2018 Sep 7.

Department of Clinical Biological Resource Bank, Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.

Kawasaki disease (KD) is an acute systemic vasculitis that is most seriously complicated by coronary artery aneurysm (CAA). The polymorphisms of platelet endothelial aggregation receptor 1 (PEAR1), notably rs12041331 and rs12566888, were found to be closely related to cardiac disease. However, little is known regarding the connection between PEAR1 and KD. Read More

Ann Hum Genet 2019 Mar 24;83(2):73-81. Epub 2018 Sep 24.

Laboratory of Prenatal Diagnostics of Inherited Diseases, D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Saint-Petersburg, Russia.

Methylation profiles of CpG islands within the SLC23A2, CDK2AP1, and DYNC1H1 genes and their association with spinal muscular atrophy (SMA) severity were studied. High clinical heterogeneity of SMA suggests the existence of different factors modifying SMA phenotype with gene methylation as a plausible one. The genes picked up in our earlier genome-wide methylation studies of SMA patients demonstrated obvious differences in their methylation patterns, thus suggesting the likely involvement of their protein products in SMA development. Read More

Ann Hum Genet 2019 Jan 11;83(1):34-45. Epub 2018 Sep 11.

Department of Clinical Chemistry, Fimlab Laboratories, and Finnish Cardiovascular Research Center - Tampere, Faculty of Medicine and Life Sciences, University of Tampere, Tampere, Finland.

Upstream transcription factor 1 (USF1) regulates the transcription of many genes related to cell and organism survival processes such as stress and immune response, regulation of cellular senesce, and carcinogenesis. In this study, our aim was to investigate the effect of USF1 single nucleotide variations (SNVs) on longevity in the Vitality 90+ study, a population-based study of nonagenarians (90 ±1 years of age) living in the area of Tampere municipality, Finland. Altogether 509 voluntary nonagenarians (115 males, 394 females) were genotyped using the 5'-nuclease assay for rs2774279G > A, rs2516839T > C, and rs2073658C > T SNVs. Read More

Ann Hum Genet 2019 Jan 7;83(1):46-53. Epub 2018 Sep 7.

School of Forensic Medicine, China Medical University, Shenyang, P.R. China.

The genetic polymorphisms of 15 autosomal short tandem repeat (STR) loci were analyzed in 449 individuals of the Uygur population from Ili Kazakh Autonomous Prefecture, Northwestern China. Phylogenetic analysis was performed among the Ili Uygur population and other relevant populations. The neighbor-joining tree and multidimensional scaling plot were generated based on the Nei's standard genetic distance. Read More

Ann Hum Genet 2019 Jan 7;83(1):63-72. Epub 2018 Sep 7.

Biology Department, University Autónoma of Madrid, Madrid, Spain.

Purpose: Although oxidative stress is thought to be an important cause of male infertility, primarily due to DNA and cell membrane damage, little is known about the genetic causes underlying suboptimal function of the seminal enzymatic antioxidant system. The aim of this study was to investigate the relationship of four potentially functional polymorphisms associated with oxidative stress pathway genes (superoxide dismutase-SOD2 lle58Thr and SOD2 rs4880, catalase-CAT C-262T, glutathione peroxidase 1-GPX1 Pro200Leu) and two null variants of the glutathione S transferase (GSTT and GSTM) genes and infertility risk.

Methods: A case control study was conducted on 313 infertile patients and 80 fertile donors. Read More

Ann Hum Genet 2019 Jan 3;83(1):23-33. Epub 2018 Sep 3.

School of Biotechnology, Dublin City University, Dublin, Ireland.

Scope: The aim of this study was to identify if specific regions of the human genome were sensitive to folate status by displaying changes in their DNA methylation patterns in response to continued folic acid supplementation during pregnancy.

Methods And Results: Samples (n = 119) from a previous randomised controlled trial in pregnancy were used to compare the DNA methylation profiles of the same woman pre- versus post-folic acid intervention. Candidate genes were identified from the literature and a pilot genome wide screen of six women (three from each of the folic acid and placebo arms of the trial). Read More

Ann Hum Genet 2019 Jan 3;83(1):1-10. Epub 2018 Sep 3.

Cellular and Molecular Research Center, Basic Health Sciences Institute, Shahrekord University of Medical Sciences, Shahrekord, Iran.

Hearing loss (HL) is the most common birth defect and the most prevalent sensorineural condition worldwide. It is associated with more than 1,000 mutations in at least 90 genes. Mutations of the gap junction beta-2 protein (GJB2) gene located in the nonsyndromic hearing loss and deafness (DFNB1) locus (chromosome 13q11-12) are the main causes of autosomal recessive nonsyndromic hearing loss worldwide, but important differences exist between various populations. Read More

Ann Hum Genet 2018 Nov 29;82(6):482-487. Epub 2018 Aug 29.

Department of Paediatrics, Tongji Hospital, Tongji Medical School, Huazhong University of Science and Technology, Wuhan, Hubei, China.

Single-nucleotide polymorphism (SNP) arrays have been widely used to identify novel genomic imbalances. Many of these genomic imbalances have been confirmed to interact with developmental delays, intellectual disabilities (IDs), and congenital defects. Here, we identify a Chinese girl with a 3. Read More

Ann Hum Genet 2018 Nov 29;82(6):469-476. Epub 2018 Aug 29.

Departement of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.

Williams-Beuren syndrome (WBS) is a chromosomal microdeletion syndrome with variable phenotypic features such as supravalvular aortic stenosis (SVAS), facial appearance characteristics, growth retardation, and infantile hypercalcemia. This study aimed to detect the 7q11.23 microdeletion in 10 patients with early clinical diagnosis of WBS using fluorescent in situ hybridization or array comparative genomic hybridization. Read More

Ann Hum Genet 2018 Nov 22;82(6):370-381. Epub 2018 Aug 22.

China Medical University Hospital of Boshan District, Zibo City, Shandong, 255200, People's Republic of China.

Background: We are interested in comprehensively evaluating the potential genetic influence of rs9332978 A/G, rs1126742 T/C, and rs9333025 G/A polymorphisms of CYP4A11 (cytochrome P450 family 4, subfamily A, member 11) in the risk of developing cardiovascular and cerebrovascular diseases.

Methods: A meta-analysis was carried out using articles obtained from online databases and Stata/SE 12.0 software. Read More

Ann Hum Genet 2018 Nov 5;82(6):457-468. Epub 2018 Aug 5.

Laboratory of Molecular and Functional Genetics, Faculty of Sciences, University of Sfax, Tunisia.

The multiple drug resistance 3 (MDR3) protein is a canalicular phospholipid translocator involved in the bile secretion and encoded by the ABCB4 gene. Its deficiency is related to a large spectrum of liver diseases. Taking into account the increased evidence about the involvement of synonymous variants in inherited diseases, this study aims to explore the putative effects of silent genetic variants on the ABCB4 expression. Read More

Ann Hum Genet 2018 Nov 24;82(6):448-456. Epub 2018 Jul 24.

UGC Centre of Excellence in Nano Applications, UIPS building, Panjab University, Chandigarh, India.

Genetic polymorphisms in glutathione S-transferase (GST) genes may modulate the risk of cardiovascular diseases. The objective of present study was to investigate the potential association between the polymorphisms of GSTM1/T1 and P1 genes and their influence on diverse clinical parameters and oxidative stress biomarkers in coronary artery disease (CAD) patients in Asian Indians. The present study includes 562 angiographically confirmed CAD patients and 564 healthy control subjects from the north Indian population. Read More

Ann Hum Genet 2018 Sep 24;82(5):304-308. Epub 2018 Jul 24.

Noor Genetics Lab, Ahvaz, Iran.

Cockayne syndrome (CS) is one the rare DNA-repair deficiency disorders with autosomal recessive inheritance. Failure to thrive and microcephaly are the major criteria of diagnosis. Owing to genetic heterogeneity of CS, whole exome sequencing is promising way to determine the genetic basis of the disease. Read More

Ann Hum Genet 2018 Nov 24;82(6):477-481. Epub 2018 Jul 24.

Growth and development Service, Garrahan Pediatric Hospital, Buenos Aires, Argentina.

Osteogenesis imperfecta (OI) is the most common skeletal dysplasia, which predisposes to recurrent fractures and bone deformity and presents with wide clinical variability. More than 80% of OI cases are related to dominantly inherited mutations in COL1A1 or COL1A2. The rest of the cases, however, involve many other noncollagen genes, all of which are autosomal-recessively inherited, except for IFITM5 and WNT1, which are also associated with autosomal dominant OI. Read More

Ann Hum Genet 2018 Nov 24;82(6):382-388. Epub 2018 Jul 24.

Shiraz Endocrinology and Metabolism Research Center, Nemazee Hospital, Shiraz University of Medical Sciences, Shiraz, Iran.

Wnt signaling/LRP6 plays a critical role in metabolic syndrome and atherosclerosis, and variation in this pathway may lead to hyperlipidemia, nonalcoholic fatty liver disease, and coronary artery disease. In the present study, we investigated the effect of LRP6 rs2302685 (V1062I) on hyperlipidemia in Iranian children and adolescents. The population in this study consisted of 200 children (101 boys, 99 girls) aged 9-18 years old. Read More

Ann Hum Genet 2018 Nov 19;82(6):437-447. Epub 2018 Jul 19.

Department of Molecular Cardiology, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA.

Apolipoprotein A5 (APOA5) regulates the metabolisms of triglyceride and HDL. APOA5 variants have been linked to coronary artery disease (CAD), but their causal roles are not well studied yet. This study aims to identify the causal effects of APOA5 variants on premature CAD. Read More

Ann Hum Genet 2018 Nov 16;82(6):425-436. Epub 2018 Jul 16.

C.G.M Genetaq, Málaga, Spain.

Neurofibromatosis type I (NF1) is one of the most common genetic disorders in humans. NF1, a tumor predisposition syndrome, is caused by heterozygous pathogenic variants in the NF1 gene. Molecular genetic testing of NF1 is complex, especially because of the presence of a high number of partial pseudogenes, some of them with a high percentage of sequence identity. Read More

Ann Hum Genet 2018 Nov 16;82(6):331-357. Epub 2018 Jul 16.

Adjunct Faculty, Department of Periodontology and Implant Dentistry, New York University College of Dentistry, New York.

Modern genetic therapy incorporates genomic testing and genome editing. It is the finest approach for precision medicine. Genome editing is a state-of-the-art technology to manipulate gene expression thus generating a particular genotype. Read More

Ann Hum Genet 2018 Nov 15;82(6):407-414. Epub 2018 Jul 15.

Institute of Gene Biology, Russian Academy of Sciences, Moscow, Russia.

The key regulator in the control of aggressive behavior is dopamine receptors. Association of variants in these genes with aggression has been shown in modern populations. However, these studies have not been conducted in traditional cultures. Read More

Ann Hum Genet 2018 Nov 15;82(6):358-369. Epub 2018 Jul 15.

The Center for Heart Development, State Key Lab of Development Biology, Key Lab of MOE for Development Biology and Protein Chemistry, College of Life Sciences, Hunan Normal University, Changsha, Hunan, China.

Myasthenia gravis (MG) is considered to be a kind of autoimmune disorder resulting from dysfunction of neuromuscular transmission caused by autoantibodies against the nicotinic acetylcholine receptors. A number of studies have identified Cytotoxic T-lymphocyte-associated antigen-4 (CTLA-4) as a candidate gene for MG. Several recent reports have indicated that single nucleotide polymorphisms (SNPs) of CTLA-4, including rs733618, rs4553808, rs5742909, rs231775, and rs3087243 were associated with the risks of MG; however, the results were not consistent. Read More

Ann Hum Genet 2018 Sep 13;82(5):272-279. Epub 2018 Jul 13.

Department of General and Molecular Pathophysiology, Bogomoletz Institute of Physiology, National Academy of Sciences of Ukraine, Kyiv, Ukraine.

Different allelic variants of genes that encode ATP-sensitive potassium (K ) channels' subunits may contribute to the development of heart failure. The purpose of the work to investigate SNPs in genes that encode K channels in relation to echocardiographic parameters in chronic heart failure (CHF) patients. Ninety-nine people with CHF of ischemic origin with left ventricular systolic dysfunction were examined. Read More

Ann Hum Genet 2018 Nov 11;82(6):396-406. Epub 2018 Jul 11.

Department of Biostatistics, The University of Texas MD Anderson Cancer Center, Houston, Texas.

Obesity and type 2 diabetes are major public health issues with known interdependence. Genetic variants have been associated with obesity, type 2 diabetes, or both; thus, we hypothesize that some single nucleotide polymorphisms (SNPs) associated with both conditions may be mediated through obesity to affect type 2 diabetes or vice versa. We propose a framework for bidirectional mediation analyses. Read More

Ann Hum Genet 2018 Nov 11;82(6):415-424. Epub 2018 Jul 11.

Departamento de Medicina Genómica y Toxicología Ambiental, Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México, Ciudad de México, México.

Background And Purpose: Smoking is a major public health problem worldwide. Polymorphisms in CHRNA3, CHRNA5, and CHRNB4 receptors play a critical role in nicotine dependence, lung cancer (LC) risk, and chronic obstructive pulmonary disease (COPD). This study characterized the CHRNA3 rs1051730 and CHRNA5 rs16969968 polymorphisms in a Mexican population and its association with nicotine dependence, LC, and COPD. Read More

Ann Hum Genet 2018 Nov 22;82(6):389-395. Epub 2018 Jun 22.

Department of Mathematical Sciences, Michigan Technological University, Houghton, Michigan.

In the study of complex diseases, several correlated phenotypes are usually measured. There is also increasing evidence showing that testing the association between a single-nucleotide polymorphism (SNP) and multiple-dependent phenotypes jointly is often more powerful than analyzing only one phenotype at a time. Therefore, developing statistical methods to test for genetic association with multiple phenotypes has become increasingly important. Read More

Ann Hum Genet 2018 Sep 20;82(5):239-243. Epub 2018 Jun 20.

UCL Genetics Institute, University College London, UK.

A number of important findings have recently emerged relevant to identifying genetic risk factors for schizophrenia. Findings using common variants point towards gene sets of interest and also demonstrate an overlap with other psychiatric and nonpsychiatric disorders. Imputation of variants of the gene for complement component 4 (C4) from GWAS data has shown that the predicted expression of the C4A product is associated with schizophrenia risk. Read More

Ann Hum Genet 2018 Sep 13;82(5):325-330. Epub 2018 Jun 13.

Laboratory of Human Genetics, Beijing Hypertension League Institute, Beijing, China.

ATP-binding cassette, superfamily G, member 2 (ABCG ) has been shown to play an important role in the development of ischemic stroke in European and African American populations. The aim of the present study is to test the hypothesis that there are associations between ABCG polymorphisms and ischemic stroke risk in a Chinese population. We conducted a case-control study including 967 participants with ischemic stroke and 939 stroke-free controls. Read More

Ann Hum Genet 2018 Sep 31;82(5):318-324. Epub 2018 May 31.

McDermott Center of Human Growth and Development.

In case-control genetic association studies, a standard practice is to perform the Cochran-Armitage (CA) trend test under the assumption of the additive model because of its robustness. We could even identify situations in which it outperformed the analysis model consistent with the underlying inheritance mode. In this article, we analytically reveal the statistical basis that leads to the phenomenon. Read More

Ann Hum Genet 2018 Sep 18;82(5):309-317. Epub 2018 May 18.

Institute of Medical Genetics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India.

Fructose-1, 6-bisphosphatase deficiency is an autosomal recessive disorder of gluconeogenesis caused by genetic defect in the FBP1 gene. It is characterized by episodic, often life-threatening metabolic acidosis, liver dysfunction, and hyperlactatemia. Without a high index of suspicion, it may remain undiagnosed with devastating consequences. Read More

Ann Hum Genet 2018 Sep 17;82(5):287-299. Epub 2018 May 17.

Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, Phoenix, AZ, USA.

Prevalence of diabetes and obesity in Mexican Pima Indians is low, while prevalence in US Pima Indians is high. Although lifestyle likely accounts for much of the difference, the role of genetic factors is not well explored. To examine this, we genotyped 359 single nucleotide polymorphisms, including established type 2 diabetes and obesity variants from genome-wide association studies (GWAS) and 96 random markers, in 342 Mexican Pimas. Read More

Ann Hum Genet 2018 Sep 17;82(5):300-303. Epub 2018 May 17.

Dermatology Department, Rio de Janeiro State University, Rio de Janeiro, Brazil.

Porphyria cutanea tarda (PCT) is a multifactorial disease; clinical expression depends on both genetic and acquired factors. Few studies have examined the connection between PCT and the regulation of iron metabolism genes other than the HFE gene. We selected five polymorphisms in the CYBRD1, CP, SLC40A1, and HAMP genes to determine whether these polymorphisms can act as genetic modulators in patients with sporadic PCT. Read More

Ann Hum Genet 2018 Sep 7;82(5):280-286. Epub 2018 May 7.

Department of Medical & Molecular Genetics, King's College London, London, UK.

Genome-wide association studies (GWASs) have allowed researchers to identify thousands of single nucleotide polymorphisms (SNPs) and other variants associated with particular complex traits. Previous studies have reported differences in the strength and even the direction of GWAS signals across different populations. These differences could be due to a combination of (1) lack of power, (2) allele frequency differences, (3) linkage disequilibrium (LD) differences, and (4) true differences in causal variant effect sizes. Read More

Ann Hum Genet 2018 Sep 16;82(5):265-271. Epub 2018 Apr 16.

Department of Urology, The First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan Province, China.

The calcium-sensing receptor (CaSR) gene plays an important role in regulating the Ca balance and reducing the risk for calcium stones. In this study, we evaluated the association of CaSR polymorphisms with calcium nephrolithiasis in the population of Yi nationality in Southwestern China. Biochemical variables were evaluated in 624 calcium nephrolithiasis patients and 470 age-matched healthy controls without a history of nephrolithiasis. Read More

Ann Hum Genet 2018 Sep 16;82(5):244-253. Epub 2018 Apr 16.

Laboratory of Molecular and Statistical Genetics, College of Life Sciences, Hunan Normal University, Changsha, Hunan, China.

Recent studies suggested that long noncoding RNAs (lncRNAs) were widely transcribed in the genome, but their potential roles in the genetic complexity of human disorders required further exploration. The purpose of the present study was to explore genetic polymorphisms of lncRNAs associated with bone mineral density (BMD) and its potential value. Based on the lncRNASNP database, 55,906 lncSNPs were selected to conduct a genome-wide association study meta-analysis among 11,140 individuals of seven independent studies for BMDs at femoral neck (FN), lumbar spine, and total hip (HIP). Read More

Ann Hum Genet 2018 Sep 30;82(5):254-264. Epub 2018 Mar 30.

Laboratory of Applied Nutrition and Metabolism, School of Physical Education and Sport, University of Sao Paulo, Sao Paulo, SP, Brazil.

In recent years, there have been an increasing number of genetic variants associated with athletic phenotypes. Here, we selected a set of sports-relevant polymorphisms that have been previously suggested as genetic markers for human physical performance, and we examined their association with athletic status in a large cohort of Brazilians. We evaluated a sample of 1,622 individuals, in which 966 were nonathletes, and 656 were athletes: 328 endurance athletes and 328 power athletes. Read More