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Annals of Human Genetics

Tai-Ping Wang
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. TNF-α polymorphism (-857C > T, -863C > A, and -1031T > C) genotyping was performed using polymerase chain reaction (PCR) amplification with sequence-specific primers (PCR-SSP)...
December 2, 2018: Annals of Human Genetics
Jin-Feng Xuan, Atif Adnan, Rehan Ali Khan, Jia-Xin Xing, Jun Yao, Bao-Jie Wang
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 (59.64%), Heilongjiang (20.21%), and Liaoning (12.55%) provinces, and the rest are spread to other parts of China. Koreans across China share a common culture, which is similar to Korea. METHODS: We have explored the genetic characteristics of 20 Y-chromosomal short tandem repeat (Y-STR) loci in 252 unrelated Chinese Korean male individuals from Jilin Province, using a Goldeneye 20Y amplification kit...
December 2, 2018: Annals of Human Genetics
Luz María Medrano, Virginia Pascual, Andrés Bodas, Natalia López-Palacios, Isabel Salazar, Laura Espino-Paisán, Beatriz González-Pérez, Elena Urcelay, Juan Luis Mendoza, Concepción Núñez
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. Determinations were carried out in colon/rectum samples from 13 UC patients (inflamed and uninflamed tissue) and four colon samples from controls...
November 6, 2018: Annals of Human Genetics
Ji Yoon Han, Woori Jang, Joonhong Park, Myungshin Kim, Yonggoo Kim, In Goo Lee
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...
November 6, 2018: 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
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...
November 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
Xiaoyu Liang, Qiuying Sha, Shuanglin Zhang
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. In this paper, we develop an Allele-based Clustering Approach (ACA) for the joint analysis of multiple non-normal phenotypes in association studies...
November 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
J Mohammadi-Asl, M Hajjari, M Tahmasebi Birgani, K Riahi, H Nasiri, A Kollaee
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. Here, we present c.1053delT in ERCC8 gene in an Iranian family with symptom of CS using whole exome sequencing. The deletion was novel and was not previously reported elsewhere.
September 2018: Annals of Human Genetics
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