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Annals of Human Genetics

WenYi Wang, Wei Tian, FaMing Zhu, LiXin Li, JinHong Cai, Fan Wang, KangLong Liu, HeKun Jin, JunLong Wang
Deletion of major histocompatibility complex class I chain-related genes A (MICA*Del) was investigated in 3,411 DNA samples from two southern Chinese Han populations (Hunan Han, HNH; Guangdong Han, GDH), two northern Chinese populations (Inner Mongolia Han, IMH; Inner Mongolia Mongol, IMM) and one southeastern Chinese Han population (Fujian Han, FJH) using an in-house polymerase chain reaction-sequence specific priming (PCR-SSP) assay, which enables direct discrimination between heterozygote and homozygote for MICA*Del...
November 2016: Annals of Human Genetics
Muzammil Ahmad Khan, Saadullah Khan, Christian Windpassinger, Muhammad Badar, Zafar Nawaz, Ramzi M Mohammad
Intellectual disability (ID) is a clinical manifestation of the central nervous system without any major dysmorphologies of the brain. Biologically it affects learning capabilities, memory, and cognitive functioning. The basic defining features of ID are characterized by IQ<70, age of onset before 18 years, and impairment of at least two of the adaptive skills. Clinically it is classified in a syndromic (with additional abnormalities) and a nonsyndromic form (with only cognitive impairment). The study of nonsyndromic intellectual disability (NSID) can best explain the pathophysiology of cognition, intelligence and memory...
November 2016: Annals of Human Genetics
Gabrielle N Manzoli, Guney Bademci, Angelina X Acosta, Têmis M Félix, F Basak Cengiz, Joseph Foster, Danniel S Dias Da Silva, Ibis Menendez, Isalis Sanchez-Pena, Demet Tekin, Susan H Blanton, Kiyoko Abe-Sandes, Xue Zhong Liu, Mustafa Tekin
Identifying the genetic etiology in a person with hearing loss (HL) is challenging due to the extreme genetic heterogeneity in HL and the population-specific variability. In this study, after excluding GJB2 variants, targeted resequencing of 180 deafness-related genes revealed the causative variants in 11 of 19 (58%) Brazilian probands with autosomal recessive HL. Identified pathogenic variants were in MYO15A (10 families) and CLDN14 (one family). Remarkably, the MYO15A p.(Val1400Met) variant was identified in eight families from the city of Monte Santo in the northeast region of Brazil...
November 2016: Annals of Human Genetics
Anke Liebert, Bryony L Jones, Erik Thomas Danielsen, Anders Krüger Olsen, Dallas M Swallow, Jesper T Troelsen
The genetic trait that allows intestinal lactase to persist into adulthood in some 35% of humans worldwide operates at the level of transcription, the effect being caused by cis-acting nucleotide changes upstream of the lactase gene (LCT). A single nucleotide substitution, -13910 C>T, the first causal variant to be identified, accounts for lactase persistence over most of Europe. Located in a region shown to have enhancer function in vitro, it causes increased activity of the LCT promoter in Caco-2 cells, and altered transcription factor binding...
November 2016: Annals of Human Genetics
Dhanasekaran Bodhini, Manickam Chidambaram, Samuel Liju, Balakannan Revathi, Dhandapani Laasya, Natarajan Sathish, Sekar Kanthimathi, Saurabh Ghosh, Ranjit Mohan Anjana, Viswanathan Mohan, Venkatesan Radha
This study reports on the association of genetic variants selected from previous genome-wide association studies for type 2 diabetic nephropathy in south Indians. Eight variants were genotyped in 601 type 2 diabetic subjects without nephropathy (DM) and 583 type 2 diabetic subjects with nephropathy (DN) by MassARRAY. The minor allele frequencies of rs11643718 SLC12A3 variant and rs741301 ELMO1 variant were significantly different between DM and DN groups (P = 0.029 and 0.016, respectively). A combined analysis showed that the subjects carrying the risk genotypes of both these variants (GG of rs11643718 + AG/AA of rs741301) had a significant association with DN with an odds ratio [adjusted for age, sex, Body Mass Index (BMI), HbA1c, and systolic Blood Pressure (BP)] of 1...
November 2016: Annals of Human Genetics
Tarja Kunnas, Tiina Solakivi, Kirsi Määttä, Seppo T Nikkari
Heparan sulfate proteoglycans modulate many physiological systems, and genes responsible for proteoglycan assembly and disassembly may affect their interaction. We sought to determine whether polymorphisms of the glucuronic acid epimerase (GLCE) rs3865014 and sulfatase-2 (SULF2) rs2281279, genes coding for enzymes participating in heparan sulfate side chain activity, associate with hypertension, selected cardiometabolic risk factors and cardiovascular events in the Tampere adult population cardiovascular risk study...
November 2016: Annals of Human Genetics
Leslie A Lange, Mariaelisa Graff, Ethan M Lange, Kristin L Young, Andrea S Richardson, Karen L Mohlke, Kari E North, Kathleen M Harris, Penny Gordon-Larsen
Glycated hemoglobin (HbA1c) is used to classify glycaemia and type 2 diabetes (T2D). Body mass index (BMI) is a predictor of HbA1c levels and T2D. We tested 43 established BMI and obesity loci for association with HbA1c in a nationally representative multiethnic sample of young adults from the National Longitudinal Study of Adolescent to Adult Health [Add Health: age 24-34 years; n = 5641 European Americans (EA); 1740 African Americans (AA); 1444 Hispanic Americans (HA)] without T2D, using two levels of covariate adjustment (Model 1: age, sex, smoking, and geographic region; Model 2: Model 1 covariates plus BMI)...
September 2016: Annals of Human Genetics
Tingjing Ke, Rajkumar Dorajoo, Yi Han, Chiea-Chuen Khor, Rob M van Dam, Jian-Min Yuan, Woon-Puay Koh, Jianjun Liu, Yik Ying Teo, Daniel Y T Goh, E Shyong Tai, Tien Yin Wong, Ching-Yu Cheng, Yechiel Friedlander, Chew-Kiat Heng
Peroxisome proliferator activated receptors (PPARs) are transcription factors involved in the regulation of key metabolic pathways. Numerous in vivo and in vitro studies have established their important roles in lipid metabolism. A few SNPs in PPAR genes have been reported to be associated with lipid levels. In this study, we aimed to investigate the interactive effects between single nucleotide polymorphisms (SNPs) in three PPAR isoforms α/δ/γ and other genetic variants across the genome on plasma high-density lipoprotein-cholesterol (HDL-C) levels...
September 2016: Annals of Human Genetics
Mahalingam Subathra, Arabandi Ramesh, Mathiyalagan Selvakumari, N P Karthikeyen, C R Srikumari Srisailapathy
Mitochondria play a critical role in the generation of metabolic energy in the form of ATP. Tissues and organs that are highly dependent on aerobic metabolism are involved in mitochondrial disorders including nonsyndromic hearing loss (NSHL). Seven pathogenic variants leading to NSHL have so far been reported on two mitochondrial genes: MT-RNR1 encoding 12SrRNA and MT-TS1 encoding tRNA for Ser((UCN)) . We screened 729 prelingual NSHL subjects to determine the prevalence of MT-RNR1 variants at position m.961, m...
September 2016: Annals of Human Genetics
Jinjin Jing, Li Su, Ying Zeng, Xiaojun Tang, Jie Wei, Long Wang, Li Zhou
Recent genome-wide association studies identified the common genetic variants in 9p21 were associated with the coronary artery disease (CAD). However, whether this locus could predict the severity of CAD in Chinese Han population is unclear. 499 CAD patients who underwent coronary angiography (CAG) have been enrolled for this study. The single-nucleotide polymorphisms rs2383207 and rs2383206 in 9p21 were genotyped in 499 CAG cases and 1519 controls in Chinese Han population. The gene dosage of 9p21 was stratified by the degree of vascular lesions and tested for association with the severity of CAD...
September 2016: Annals of Human Genetics
Shenghui Wu, Taek-Kyun Kim, Xiaogang Wu, Kelsey Scherler, David Baxter, Kai Wang, Ruth E Krasnow, Terry Reed, Jun Dai
Human life expectancy is influenced not only by longevity assurance mechanisms and disease susceptibility loci but also by the environment, gene-environment interactions, and chance. MicroRNAs (miRNAs) are a class of small noncoding RNAs closely related to genes. Circulating miRNAs have been shown as promising noninvasive biomarkers in the development of many pathophysiological conditions. However, the concentration of miRNA in the circulation may also be affected by environmental factors. We used a next-generation sequencing platform to assess the association of circulating miRNA with life expectancy, for which deaths are due to all causes independent of genes...
September 2016: Annals of Human Genetics
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July 2016: Annals of Human Genetics
Sekar Kanthimathi, Samuel Liju, Dhandapani Laasya, Ranjit Mohan Anjana, Viswanathan Mohan, Venkatesan Radha
Hexokinase domain containing 1 (HKDC1), a novel human hexokinase gene, is known to affect glucose metabolism and was shown to have a strong association with 2-h plasma glucose in pregnant women in a recent genome wide association study. This study aimed to evaluate the association of these regulatory variants of HKDC1 (rs1076224, rs4746822, rs2394529 and rs9645501) with gestational diabetes mellitus (GDM) in a South Indian population. The regulatory variants of HKDC1 were genotyped in unrelated 500 women with GDM and 510 non-GDM individuals by using the MassARRAY system and by direct DNA sequencing...
July 2016: Annals of Human Genetics
Yasunari Sakai, Ryoko Fukai, Yuki Matsushita, Noriko Miyake, Hirotomo Saitsu, Satoshi Akamine, Michiko Torio, Momoko Sasazuki, Yoshito Ishizaki, Masafumi Sanefuji, Hiroyuki Torisu, Chad A Shaw, Naomichi Matsumoto, Toshiro Hara
BACKGROUND: Early-onset epileptic encephalopathy (EOEE) is a heterogeneous group of neurodevelopmental disorders characterised by infantile-onset intractable epilepsy and unfavourable developmental outcomes. Hundreds of mutations have been reported to cause EOEE; however, little is known about the clinical features of individuals with rare variants. CASE REPORT AND METHODS: We present a 10-year-old boy with severe developmental delay. He started experiencing recurrent focal seizures at 2 months old...
July 2016: Annals of Human Genetics
Hongyan Fang, Hong Zhang, Yaning Yang
Genome-wide association study (GWAS) has achieved great success in identifying genetic variants, but the nature of GWAS has determined its inherent limitations. Under the common disease rare variants (CDRV) hypothesis, the traditional association analysis methods commonly used in GWAS for common variants do not have enough power for detecting rare variants with a limited sample size. As a solution to this problem, pooling rare variants by their functions provides an efficient way for identifying susceptible genes...
July 2016: Annals of Human Genetics
M Gabriela Russo, Fanny Mendisco, Sergio A Avena, Cristina B Dejean, Verónica Seldes
Almost all pre-Hispanic societies from Quebrada de Humahuaca (north-western Argentina) buried their defuncts in domestic areas, demonstrating the importance of death and its daily presence among the living. Presumably, the collective graves contained related individuals, a hypothesis that can be tested through the study of ancient DNA. This study analyzes autosomal and uniparental genetic markers in individuals from two archaeological sites in Quebrada de Humahuaca occupied during the Late Formative (1450-1050 BP) and Regional Developments I (1050-700 BP) periods...
July 2016: Annals of Human Genetics
Fabiana A De Andrade, Meire S Batistela, Sarah Da C Amaral, Willian Dos Santos, Liya R Mikami, Eleidi A Chautard-Freire-Maia, Lupe Furtado-Alle, Ricardo L R Souza
The human butyrylcholinesterase (BChE) is a serum esterase that has been associated with body mass index (BMI) and obesity. Its activity is conditioned by alleles of BCHE gene and the CHE2 locus that codifies an unknown BChE-binding protein (C5 complex). The hypothesis that the CHE2 locus is the RAPH1 gene, which encodes lamellipodin (Lpd), was raised in a study that observed Lpd peptides released from denatured BChE tetramers. The aim of this study was to test this hypothesis by evaluating SNPs of RAPH1 gene (rs2246118:C > T, rs3814365:A > G and rs2465520:C > T) in 34 CHE2 C5+ and 92 CHE2 C5- individuals, corresponding to the presence and absence of C5 complex...
July 2016: Annals of Human Genetics
Wenjun Wang, Zhengwei Zhu, Caihong Zhu, Xiaodong Zheng, Xianbo Zuo, Gang Chen, Fusheng Zhou, Bo Liang, Huayang Tang, Zaixing Wang, Xuejun Zhang, Liangdan Sun
Psoriasis vulgaris is a chronic inflammatory skin disease associated with complex genetic susceptibility. Recently, we identified a single-nucleotide variant rs1020760 at NFKB1 significantly associated with psoriasis in a Han Chinese population in deep analysis of exome and targeted sequencing (P = 1.76 × 10(-8) ). To investigate the potential association between rs1020760 and phenotypes of psoriasis vulgaris, we performed a genotype-phenotype analysis. A total of 9946 cases and 9906 controls with detailed clinical and demographic information were involved in this study, while the genotype data of rs1020760 was available in the previous targeted sequencing study of psoriasis...
July 2016: Annals of Human Genetics
Anne Koopmann, Jennifer Bez, Tagrid Lemenager, Derik Hermann, Christina Dinter, Iris Reinhard, Rilana Schuster, Klaus Wiedemann, Georg Winterer, Falk Kiefer
Tobacco smoking modulates activity in the hypothalamic-pituitary-adrenal (HPA) axis and is used to cope with stress, especially by females. The single nucleotide polymorphism (SNP) rs1360780, linked to FK506-binding protein 51 (FKBP5), has been shown to affect HPA axis functioning, and has thus been suggested as a promising candidate for indicating vulnerability to stress-related disorders. The aim of this study was to investigate the interaction between nicotine consumption and rs1360780 on cortisol plasma levels in females...
May 2016: Annals of Human Genetics
A Mesut Erzurumluoglu, Hashem A Shihab, Santiago Rodriguez, Tom R Gaunt, Ian N M Day
Consanguineous offspring have elevated levels of homozygosity. Autozygous stretches within their genome are likely to harbour loss of function (LoF) mutations which will lead to complete inactivation or dysfunction of genes. Studying consanguineous offspring with clinical phenotypes has been very useful for identifying disease causal mutations. However, at present, most of the genes in the human genome have no disorder associated with them or have unknown function. This is presumably mostly due to the fact that homozygous LoF variants are not observed in outbred populations which are the main focus of large sequencing projects...
May 2016: Annals of Human Genetics
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