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Annals of Human Genetics

Julimary Suematsu Aquino, Eliane Papa Ambrosio-Albuquerque, Hugo Vicentin Alves, Luciana Conci Macedo, Lorena Visentainer, Ana Maria Sell, Jeane Eliete Laguila Visentainer
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, 1.1-13.5; P, 0.023). Furthermore, the AA genotype of IL17A G197A was associated with leprosy type 1 reaction (OR, 2.4; 95% CI, 1.1-5.1; P, 0...
October 10, 2018: Annals of Human Genetics
V Alesi, M L Dentici, S Loddo, S Genovese, V Orlando, C Calacci, D Pompili, B Dallapiccola, M C Digilio, A Novelli
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. Patients harboring a 19p interstitial deletion shared some physical features with BRD4 mutation carriers, which results in a more complex phenotype because of the involvement of several neighboring genes...
October 10, 2018: Annals of Human Genetics
Shu-Bing Zhang, Yu-Xing Liu, Liang-Liang Fan, Hao Huang, Jing-Jing Li, Jie-Yuan Jin, Rong Xiang
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. In this study, we investigate a Chinese family of three generations with four patients with DCM. Employing whole-exome sequencing (WES) and bioinformatics strategies, a novel heterozygous missense mutation p...
October 2, 2018: Annals of Human Genetics
Nicolás Montalva, Kaustubh Adhikari, Anke Liebert, Javier Mendoza-Revilla, Sergio V Flores, Ruth Mace, Dallas M Swallow
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. DNA samples and data on stature, reproduction, and diet were collected from 451 participants...
September 27, 2018: Annals of Human Genetics
Marianna Maretina, Anna Egorova, Vladislav Baranov, Anton Kiselev
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...
September 24, 2018: Annals of Human Genetics
B Ozsait-Selcuk, E Komurcu-Bayrak, M Jylhä, T Luukkaala, M Perola, K Kristiansson, N Mononen, M Hurme, M Kähönen, S Goebeler, R Laaksonen, A Hervonen, N Erginel-Unaltuna, P J Karhunen, T Lehtimäki
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...
September 11, 2018: Annals of Human Genetics
Lei Pi, Yufen Xu, Lanyan Fu, Li Zhang, Yunfeng Liu, Huazhong Zhou, Di Che, Xiaoqiong Gu
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. In this study, we genotyped PEAR1 rs12566888 and rs12041331 in 637 healthy infants and 694 KD patients (74 with CAA). Subsequently, odds ratio (OR) and 95% confidence interval (CI) were calculated to assess the strength of their relationships...
September 7, 2018: Annals of Human Genetics
Chun-Mei Feng, Xin Wang, Hao Yu, Xiao-Long Wang, Guo-Hua Zhang
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. We found a total of 173 alleles with corresponding frequencies ranging from 0.5022 to 0.0011. The combined powers of discrimination and exclusion for the 15 autosomal STR loci were 0...
September 7, 2018: Annals of Human Genetics
Anaís García Rodríguez, Moises de la Casa, Stephen Johnston, Jaime Gosálvez, Rosa Roy
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...
September 7, 2018: Annals of Human Genetics
Alan Harrison, Kristina Pentieva, Mari Ozaki, Helene McNulty, Anne Parle-McDermott
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)...
September 3, 2018: Annals of Human Genetics
Fatemeh Azadegan-Dehkordi, Reza Ahmadi, Mahbobeh Koohiyan, Morteza Hashemzadeh-Chaleshtori
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. In the present article, two common mutations of the GJB2 gene are compared for ethnic-specific allele frequency, their function, and their contribution to genetic HL in different populations...
September 3, 2018: Annals of Human Genetics
Ying Weng, Xiaoping Luo, Ling Hou
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 3.18-Mb deletion at 12q12 (human genome build 19: 43,418,911-46,601,627) who showed postnatal growth delay, low-set ears, small hands and feet, widely spaced nipples, and blue sclerae. Deletions at 12q12 are extremely rare chromosomal imbalances; only four cases involving a deletion of this type have previously been reported...
August 29, 2018: Annals of Human Genetics
Mahsa Ghaffari, Maryam Tahmasebi Birgani, Roxana Kariminejad, Alihossein Saberi
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. As an alternative method, multiplex ligation-dependent probe amplification (MLPA) was used to confirm this microdeletion...
August 29, 2018: Annals of Human Genetics
Kuiying Yu, Tao Zhang, Xuhua Li
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. We primarily used a P value of association test (Passociation ) and odds ratios (OR) to assess the genetic relationships...
August 22, 2018: Annals of Human Genetics
Boudour Khabou, Mouna Tabebi, Olfa Siala-Sahnoun, Emna Mkaouar-Rebai, Ahmed Rebai, Faiza Fakhfakh
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. We performed an exhaustive computational approach using ESE finder, RegRNA 2.0, MFOLD, SNPfold, and %MinMax software added to the measurement of the Relative Synonymous Codon Usage...
August 5, 2018: Annals of Human Genetics
J S Bhatti, R Vijayvergiya, B Singh, G K Bhatti
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...
July 24, 2018: Annals of Human Genetics
Mercedes Rodriguez Celin, Shahida Moosa, Virginia Fano
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. Since 2012, a single recurrent heterozygous mutation in IFITM5 (c...
July 24, 2018: Annals of Human Genetics
Nima Montazeri-Najafabady, Mohammad Hossein Dabbaghmanesh, Rajeeh Mohammadian Amiri
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. Total cholesterol, high-density lipoprotein (HDL), low-density lipoprotein (LDL), non-HDL cholesterol, and triglyceride levels were measured...
July 24, 2018: Annals of Human Genetics
Fan Wang, Isabel Z Wang, Stephen Ellis, Stephen Archacki, John Barnard, Carlos Hubbard, Eric J Topol, Qiuyun Chen, Qing K Wang
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. Sequencing analysis of APOA5 in 128 premature, familiar CAD patients from GeneQuest identified 11 genomic variants, including p.S19W (rs3135506). SKAT analysis showed that all sequenced variants, in aggregate, significantly increased the risk of premature CAD (P-skat = 0...
November 2018: Annals of Human Genetics
Rajesh Talluri, Sanjay Shete
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. Simulations show that this approach accurately estimates the parameters, whether the mediation is unidirectional or bidirectional...
November 2018: Annals of Human Genetics
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