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Annals of Human Genetics

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https://www.readbyqxmd.com/read/29044474/exome-sequencing-identifies-a-novel-nonsense-mutation-of-myo6-as-the-cause-of-deafness-in-a-brazilian-family
#1
Juliana Sampaio-Silva, Ana Carla Batissoco, Rafaela Jesus-Santos, Osório Abath-Neto, Luciano Cesar Scarpelli, Patricia Yoshie Nishimura, Layla Testa Galindo, Ricardo Ferreira Bento, Jeanne Oiticica, Karina Lezirovitz
We investigated 313 unrelated subjects who presented with hearing loss to identify the novel genetic causes of this condition in Brazil. Causative GJB2/GJB6 mutations were found in 12.7% of the patients. Among the familial cases (100/313), four were selected for exome sequencing. In one case, two novel heterozygous variants were found and were predicted to be pathogenic based on bioinformatics tools, that is, p.Ser906* (MYO6) and p.Arg42Cys (GJB3). We confirmed that this nonsense MYO6 mutation segregated with deafness in this family...
October 17, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28940454/choledochal-cyst-with-17q12-chromosomal-duplication
#2
Radana Kotalova, Petra Dusatkova, Jana Drabova, Lenka Elblova, Tomas Dedic, Ondrej Cinek, Jan Lebl, Stepanka Pruhova
The 17q12 chromosomal region carries the HNF1B gene, mutations of which cause various conditions. When searching for HNF1B/17q12 rearrangements among children with biliary atresia and/or choledochal cysts, we identified a male proband carrying a 17q12 duplication spanning 1698 kb that included 24 genes from TBC1D3C to HNF1B. The boy presented with cholestatic jaundice at the age of 2 weeks due to a choledochal cyst sized 15 ×12 mm (type Ia according to the Todani classification). He underwent a shunt surgery consisting of a hepaticojejunostomy using Roux-en-Y loop at the age of 2 months, which led to a permanent relief of cholestasis...
September 22, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28940310/single-center-experience-of-n-linked-congenital-disorders-of-glycosylation-with-a-summary-of-molecularly-characterized-cases-in-arabs
#3
Fatma Bastaki, Sami Bizzari, Sana Hamici, Pratibha Nair, Madiha Mohamed, Fatima Saif, Ethar Mustafa Malik, Mahmoud Taleb Al-Ali, Abdul Rezzak Hamzeh
Congenital disorders of glycosylation (CDG) represent an expanding group of conditions that result from defects in protein and lipid glycosylation. Different subgroups of CDG display considerable clinical and genetic heterogeneity due to the highly complex nature of cellular glycosylation. This is further complicated by ethno-geographic differences in the mutational landscape of each of these subgroups. Ten Arab CDG patients from Latifa Hospital in Dubai, United Arab Emirates, were assessed using biochemical (glycosylation status of transferrin) and molecular approaches (next-generation sequencing [NGS] and Sanger sequencing)...
September 21, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28895130/ancestry-informative-marker-panel-to-estimate-population-stratification-using-genome-wide-human-array
#4
Fernanda B Barbosa, Natalia F Cagnin, Milena Simioni, Allysson A Farias, Fábio R Torres, Miriam C Molck, Tânia K Araujo, Vera L Gil-Da-Silva-Lopes, Eduardo A Donadi, Aguinaldo L Simões
Case-control studies are a powerful strategy to identify candidate genes in complex diseases. In admixed populations, association studies can be affected by population stratification, leading to spurious genetic associations. Ancestry informative markers (AIMs) can be used to minimise this effect. The aim of this work was to select a set of AIMs to estimate population stratification in a Brazilian case-control study performed using a genome-wide array. A total of 345 single nucleotide polymorphism (SNP) AIMs, selected from the Cytoscan HD array and based on previously reported panels, was used to discriminate between European, African, and Amerindian populations...
September 11, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28895127/evaluation-of-ccaat-enhancer-binding-protein-c-ebp-alpha-cebpa-and-runt-related-transcription-factor-1-runx1-expression-in-patients-with-de-novo-acute-myeloid-leukemia
#5
Fatemeh Salarpour, Kourosh Goudarzipour, Mohammad Hossein Mohammadi, Ahmad Ahmadzadeh, Sara Faraahi, Mehdi Allahbakhshian Farsani
The CCAAT/enhancer binding protein (C/EBP) alpha (CEBPA) and Runt-related transcription factor 1 (RUNX1) genes have been traditionally regarded as two essential genes involved in normal myeloid maturation. Although the link between mutations in these genes and the development of acute myeloid leukemia (AML) has been extensively documented, the ramifications of gene expression dysregulations of CEBPA and RUNX1 has drawn less attention. The present study investigated CEBPA and RUNX1 gene expression levels in 96 primary AML specimens against a normal control group by way of real-time RT-PCR...
September 11, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28895126/construction-of-an-exome-wide-risk-score-for-schizophrenia-based-on-a-weighted-burden-test
#6
David Curtis
Polygenic risk scores obtained as a weighted sum of associated variants can be used to explore association in additional data sets and to assign risk scores to individuals. The methods used to derive polygenic risk scores from common SNPs are not suitable for variants detected in whole exome sequencing studies. Rare variants, which may have major effects, are seen too infrequently to judge whether they are associated and may not be shared between training and test subjects. A method is proposed whereby variants are weighted according to their frequency, their annotations and the genes they affect...
September 11, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28857123/evaluation-of-a-role-for-npy-and-npy2r-in-the-pathogenesis-of-obesity-by-mutation-and-copy-number-variation-analysis-in-obese-children-and-adolescents
#7
Evi Aerts, Ellen Geets, Laure Sorber, Sigri Beckers, An Verrijken, Guy Massa, Kim Van Hoorenbeeck, Stijn L Verhulst, Luc F Van Gaal, Wim Van Hul
Neuropeptide Y (NPY) and its G protein-coupled NPY Y2 Receptor (NPY2R) are highly expressed in orexigenic NPY/Agouti-related peptide neurons within the arcuate nucleus, a major integrator of appetite control in the hypothalamus. As NPY and NPY2R are interesting candidate genes for obesity, we hypothesized that a genetic variation in these genes might be implicated in the pathogenesis of obesity. In the first part of this study, we performed a mutation analysis of the coding region of NPY and NPY2R with high-resolution melting curve analysis...
August 31, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28856668/interaction-between-val158met-catechol-o-methyltransferase-polymorphism-and-social-cognitive-functioning-in-schizophrenia-pilot-study
#8
Aneta Tylec, Witold Jeleniewicz, Ann Mortimer, Małgorzata Bednarska-Makaruk, Katarzyna Kucharska
The Val158Met catechol-O-methyltransferase (COMT) functional polymorphism may influence social cognitive functioning in patients with schizophrenia. Aspects of social cognition were evaluated with the Facial Expression Recognition Test, the Voice Emotion Recognition Test, and the Reading the Mind in the Eyes Test. The Short Recognition Memory Test for Faces was used as a control measure. The Schedule for the Assessment of Negative Symptoms, Schedule for the Assessment of Positive Symptoms, and Beck Depression Inventory were used to rate of patient symptoms...
August 30, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28786104/prevalence-of-mutations-in-deafness-causing-genes-in-cochlear-implanted-patients-with-profound-nonsyndromic-sensorineural-hearing-loss-in-shandong-province-china
#9
Jianfen Luo, Xiaohui Bai, Fengguo Zhang, Yun Xiao, Lintao Gu, Yuechen Han, Zhaomin Fan, Jianfeng Li, Lei Xu, Haibo Wang
The mutations of GJB2, SLC26A4, and mtDNA12SrRNA are the most common inherited causes of nonsyndromic sensorineural hearing loss (NSHL) in China, yet previous genetic screenings were mainly carried on patients with moderate-to-profound impairment. We aimed to detect the mutation frequencies in NSHL population within a more specified range of severity. Patients with profound NSHL who had undergone cochlear implantation in the Shandong Provincial Hospital (Shandong, China) were recruited. The majority (n  =  472) were between 0...
August 8, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28771684/high-y-chromosomal-differentiation-among-ethnic-groups-of-dir-and-swat-districts-pakistan
#10
Inam Ullah, Jill K Olofsson, Ashot Margaryan, Melissa Ilardo, Habib Ahmad, Martin Sikora, Anders J Hansen, Muhammad Shahid Nadeem, Numan Fazal, Murad Ali, Anders Buchard, Brian E Hemphill, Eske Willerslev, Morten E Allentoft
The ethnic groups that inhabit the mountainous Dir and Swat districts of northern Pakistan are marked by high levels of cultural and phenotypic diversity. To obtain knowledge of the extent of genetic diversity in this region, we investigated Y-chromosomal diversity in five population samples representing the three main ethnic groups residing within these districts, including Gujars, Pashtuns and Kohistanis. A total of 27 Y-chromosomal short tandem repeats (Y-STRs) and 331 Y-chromosomal single nucleotide polymorphisms (Y-SNPs) were investigated...
August 3, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28741671/the-impact-of-foxp3-polymorphism-on-the-risk-of-allergic-rhinitis-a-meta-analysis
#11
Guimin Zhang, Di Zhang, Wenjie Shi, Peiyong Sun, Peng Lin
Polymorphisms of several genes were reported to be associated with the risk of allergic rhinitis. Here, we first conducted a meta-analysis to evaluate the potential genetic association between the polymorphisms of the FOXP3 (Forkhead Box P3) gene and the susceptibility to allergic rhinitis. A total of 2671 relevant articles were initially retrieved from the databases of PubMed, Web of Science, Embase, WANFANG/CNKI and Scopus, and six eligible case-control studies were finally enrolled in our meta-analysis, according to our strict inclusion/exclusion criteria...
July 25, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28653322/differentiating-the-cochran-armitage-trend-test-and-pearson-s-%C3%AF-2-test-location-and-dispersion
#12
Zhengyang Zhou, Hung-Chih Ku, Zhipeng Huang, Guan Xing, Chao Xing
In genetic case-control association studies, a standard practice is to perform the Cochran-Armitage (CA) trend test with 1 degree-of-freedom (d.f.) under the assumption of an additive model. However, when the true genetic model is recessive or near recessive, it is outperformed by Pearson's χ(2) test with 2 d.f. In this article, we analytically reveal the statistical basis that leads to the phenomenon. First, we show that the CA trend test examines the location shift between the case and control groups, whereas Pearson's χ(2) test examines both the location and dispersion shifts between the two groups...
September 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28736820/disease-causing-variants-in-the-atl1-gene-are-a-rare-cause-of-hereditary-spastic-paraplegia-among-czech-patients
#13
Anna Uhrová Mészárosová, Dagmar Grečmalová, Michaela Brázdilová, Nina Dvořáčková, Zdeněk Kalina, Marie Čermáková, Dagmar Vávrová, Irena Smetanová, David Staněk, Pavel Seeman
Variants in the ATL1 gene have been repeatedly described as the second most frequent cause of hereditary spastic paraplegia (HSP), a motor neuron disease manifested by progressive lower limb spasticity and weakness. Variants in ATL1 have been described mainly in patients with early onset HSP. We performed Sanger sequencing of all coding exons and adjacent intron regions of the ALT1 gene in 111 Czech patients with pure form of HSP and additional Multiplex-Ligation Probe Analysis (MLPA) testing targeting the ATL1 gene in 56 of them...
July 23, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28670684/apolipoprotein-e-polymorphism-and-left-ventricular-failure-in-beta-thalassemia-a-multivariate-meta-analysis
#14
Niki L Dimou, Katerina G Pantavou, Pantelis G Bagos
Apolipoprotein E (ApoE) is potentially a genetic risk factor for the development of left ventricular failure (LVF), the main cause of death in beta-thalassemia homozygotes. In the present study, we synthesize the results of independent studies examining the effect of ApoE on LVF development in thalassemic patients through a meta-analytic approach. However, all studies report more than one outcome, as patients are classified into three groups according to the severity of the symptoms and the genetic polymorphism...
July 2, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28620993/the-role-of-tlr4-tnf-%C3%AE-and-il-1%C3%AE-in-type-2-diabetes-mellitus-development-within-a-north-indian-population
#15
Natalie E Doody, Monika M Dowejko, Elizabeth C Akam, Nick J Cox, Jasvinder S Bhatti, Puneetpal Singh, Sarabjit S Mastana
This study investigated the role of IL-1β-511 (rs16944), TLR4-896 (rs4986790) and TNF-α-308 (rs1800629) polymorphisms in type 2 diabetes mellitus (T2DM) among an endogamous Northern Indian population. Four hundred fourteen participants (204 T2DM patients and 210 nondiabetic controls) were genotyped for IL-1β-511, TLR4-896 and TNF-α-308 loci. The C allele of IL-1β-511 was shown to increase T2DM susceptibility by 75% (OR: 1.75 [CI 1.32-2.33]). Having two parents affected by T2DM increased susceptibility by 5...
July 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28620992/detection-of-imprinting-effects-for-quantitative-traits-on-x-chromosome-using-nuclear-families-with-multiple-daughters
#16
Kexin Yu, Ji-Yuan Zhou, Wing Kam Fung
Genomic imprinting is an epigenetic phenomenon in which the expression of an allele copy depends on its parental origin. This mechanism has been found to play an important role in many complex diseases. Statistical tests for imprinting effects have been developed for more than 15 years, but they are only suitable for autosomes. It was not until recently that the parental-asymmetry test on the X chromosome (XPAT) was proposed to test for imprinting effects. However, this test can only be used for qualitative traits...
July 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28620991/potential-positive-association-between-cytochrome-p450-1a1-gene-polymorphisms-and-recurrent-pregnancy-loss-a-meta-analysis
#17
Jie Li, Yang Chen, Sien Mo, Donghong Nai
In order to discover the potential genetic risks associated with recurrent pregnancy loss (RPL), this meta-analysis was conducted to assess the association between CYP1A1 gene polymorphism and RPL. Studies were retrieved from the databases PubMed, Embase, HuGENet, and CNKI. Four models were then applied. Seven studies, including three datasets for the rs1048943 and five for the rs4646903 single-nucleotide polymorphism (SNP), were included in this analysis, involving 613 cases and 398 controls for the rs1048943; and 864 cases and 842 controls for the rs4646903 SNP...
July 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28620990/association-patterns-of-endothelial-nitric-oxide-synthase-gene-nos3-variant-glu298asp-with-blood-pressure-and-serum-lipid-levels-in-subjects-with-coronary-artery-disease-from-pakistan
#18
Saleem Ullah Shahid, Abdul Rehman
Nitric oxide is an important antiatherosclerotic agent. The main determinant of nitric oxide levels is enzyme nitric oxide synthase encoded by the NOS3 gene, the common variants in this gene may be responsible for variations in plasma enzyme levels. The association of NOS3 variants with coronary artery disease (CAD) varies in different ethnicities. The current study aimed to determine the association of NOS3 Glu298Asp (rs1799983) with CAD and blood lipid levels in Pakistani subjects. Six hundred thirty-six samples (412 cases, 224 controls) were genotyped by TaqMan allelic discrimination assay and serum total cholesterol, and High Density Lipoprotein cholesterol (HDL-C)/Low Density Lipoprotein cholesterol (LDL-C) and triglycerides were measured...
July 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28657145/macrophage-migration-inhibitory-factor-mif-gene-promotor-polymorphism-is-associated-with-increased-fibrosis-in-biliary-atresia-patients-but-not-with-disease-susceptibility
#19
Khaled H Sadek, Sameera Ezzat, Samira A Abdel-Aziz, Hanaa Alaraby, Asmaa Mosbeh, Mohamed H Abdel-Rahman
Two polymorphisms, rs755622 and rs5844572, in the promoter region of the macrophage migration inhibitory factor (MIF) gene influence the basal and/or induced transcriptional activity and have been linked to several inflammatory and autoimmune diseases. The aim of this study was to investigate the association between these two polymorphisms and disease susceptibility in patients with biliary atresia (BA). Allele frequencies of rs755622 and rs5844572 were assessed in 60 Egyptian infants with a confirmed diagnosis of BA...
June 28, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28653770/studies-on-n-acetyltransferase-nat2-genotype-relationships-in-emiratis-confirmation-of-the-existence-of-phenotype-variation-among-slow-acetylators
#20
Mohammad M Al-Ahmad, Naheed Amir, Subramanian Dhanasekaran, Anne John, Yousef M Abdulrazzaq, Bassam R Ali, Salim Bastaki
BACKGROUND AND PURPOSE: Individuals with slow N-acetylation phenotype often experience toxicity from drugs such as isoniazid, sulfonamides, procainamide, and hydralazine, whereas rapid acetylators may not respond to these medications. The highly polymorphic N-acetyltransferase 2 enzyme encoded by the NAT2 gene is one of the N-acetylators in humans with a clear impact on the metabolism of a significant number of important drugs. However, there are limited studies on N-acetylation phenotypes and NAT2 genotypes among Emiratis, and thus this study was carried out to fill this gap...
June 27, 2017: Annals of Human Genetics
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