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Annals of Human Genetics

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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
#1
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
#2
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
#3
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/28736820/disease-causing-variants-in-the-atl1-gene-are-a-rare-cause-of-hereditary-spastic-paraplegia-among-czech-patients
#4
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
#5
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/28657145/macrophage-migration-inhibitory-factor-mif-gene-promotor-polymorphism-is-associated-with-increased-fibrosis-in-biliary-atresia-patients-but-not-with-disease-susceptibility
#6
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
#7
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
https://www.readbyqxmd.com/read/28620953/molecular-characterisation-of-%C3%AE-and-%C3%AE-thalassaemia-among-indigenous-senoi-orang-asli-communities-in-peninsular-malaysia
#8
Danny Xuan Rong Koh, Raja Zahratul Azma Raja Sabudin, Malisa Mohd Yusoff, Noor Hamidah Hussin, Rahimah Ahmad, Ainoon Othman, Endom Ismail
Thalassaemia is a public health problem in Malaysia, with each ethnic group having their own common mutations. However, there is a lack on data on the prevalence and common mutations among the indigenous people. This cross-sectional study was performed to determine the common mutations of α- and β-thalassaemia among the subethnic groups of Senoi, the largest Orang Asli group in Peninsular Malaysia. Blood samples collected from six Senoi subethnic groups were analysed for full blood count and haemoglobin analysis (HbAn)...
June 16, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28597910/a-complete-association-of-an-intronic-snp-rs6798742-with-origin-of-spinocerebellar-ataxia-type-7-cag-expansion-loci-in-the-indian-and-mexican-population
#9
Mohammed Faruq, Jonathan J Magaña, Varun Suroliya, Ankita Narang, Nadia M Murillo-Melo, Oscar Hernández-Hernández, Achal K Srivastava, Mitali Mukerji
Spinocerebellar ataxia type 7 (SCA7) is a rare neurogenetic disorder caused by highly unstable CAG repeat expansion mutation in coding region of SCA7. We aimed to understand the effect of diverse ATXN7 cis-element in correlation with CAG expansion mutation of SCA7. We initially performed an analysis to identify the haplotype background of CAG expanded alleles using eight bi-allelic single nucleotide polymorphisms (SNPs) flanking an ATXN7-CAG expansion in 32 individuals from nine unrelated Indian SCA7 families and 88 healthy controls...
June 9, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28560814/e-b-robson-phd-1928-2016-galton-professor-of-human-genetics-university-college-london-and-editor-in-chief-of-the-annals-of-human-genetics-died-july-18th-2016
#10
Sue Povey, David Hopkinson
No abstract text is available yet for this article.
May 31, 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
#11
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/28620993/the-role-of-tlr4-tnf-%C3%AE-and-il-1%C3%AE-in-type-2-diabetes-mellitus-development-within-a-north-indian-population
#12
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
#13
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
#14
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
#15
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/28523642/autosomal-recessive-nonsyndromic-arrhythmogenic-right-ventricular-cardiomyopathy-without-cutaneous-involvements-a-novel-mutation
#16
Mahdieh Soveizi, Bahareh Rabbani, Yousef Rezaei, Sedigheh Saedi, Nasim Najafi, Majid Maleki, Nejat Mahdieh
The arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a genetic disease frequently associated with desmosomal mutations, mainly attributed to dominant mutations in the Plakophilin-2 (PKP2) gene. Naxos and Carvajal are the syndromic forms of ARVD/C due to recessive mutations. Herein, we report an autosomal recessive form of nonsyndromic ARVD/C caused by a mutation in the PKP2 gene. After examination and implementation of diagnostic modalities, the definite diagnosis of ARVD/C was confirmed by detection of ventricular tachycardia with a left bundle branch configuration and a superior axis, T-wave inversion in right precordial leads (i...
May 19, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28422282/analysis-of-circulating-mir-1-mir-23a-and-mir-26a-in-atrial-fibrillation-patients-undergoing-coronary-bypass-artery-grafting-surgery
#17
Andre Feldman, Dalmo Antonio Ribeiro Moreira, Carlos Gun, Hui-Tzu Lin Wang, Mario Hiroyuki Hirata, Juliana de Freitas Germano, Gabriela Guimarães Sousa Leite, Pedro Farsky
Atrial fibrillation (AF) is the most common arrhythmia after cardiac surgery. From a pathophysiological point of view, a myriad of factors such as trauma, atrial dilation, ischemia, mechanical myopericarditis, autonomic imbalance, loss of connexins, AF nest remodeling, inflammation, sutures, and dysfunction caused by postextracorporeal circulation can contribute to postoperative atrial fibrillation (POAF) resulting in a longer hospital stay and consequently higher cost. Recent studies showed that short fragments of RNA, called microRNA (miRNA), can contribute to the development of several cardiovascular diseases, including AF...
May 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28369821/does-the-novel-klf1-gene-mutation-lead-to-a-delay-in-fetal-hemoglobin-switch
#18
Priya Hariharan, Manju Gorivale, Roshan Colah, Kanjaksha Ghosh, Anita Nadkarni
The Kruppel-like factor 1 (KLF1) gene is an essential transcription factor that is required for the proper maturation of the erythroid cells. Recent studies have reported that KLF1 variations are associated with increased fetal hemoglobin (HbF) levels. Here we report a novel KLF1 gene variation codon 211 A→G (c.632 A>G) in a family who was referred for hemoglobinopathy screening. Both parents were classical β-thalassemia trait (mother: HbA2 4.1%, HbF 8.6%; father: HbA2 5.5%, HbF 0.6%) codon 15 G→A heterozygous, and the child was β-thalassemia homozygous...
May 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28294290/genetic-obesity-risk-and-attenuation-effect-of-physical-fitness-in-mexican-mestizo-population-a-case-control-study
#19
Paula Costa-Urrutia, Carolina Abud, Valentina Franco-Trecu, Valentina Colistro, Martha Eunice Rodríguez-Arellano, Joel Vázquez-Pérez, Julio Granados, Marilia Seelaender
We analyzed commonly reported European and Asian obesity-related gene variants in a Mexican-Mestizo population through each single nucleotide polymorphism (SNP) and a genetic risk score (GRS) based on 23 selected SNPs. Study subjects were physically active Mexican-Mestizo adults (n  =  608) with body mass index (BMI) values from 18 to 55 kg/m(2) . For each SNP and for the GRS, logistic models were performed to test for simple SNP associations with BMI, fat mass percentage (FMP), waist circumference (WC), and the interaction with VO2max and muscular endurance (ME)...
May 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28244588/investigation-of-opg-rank-rankl-genes-as-a-genetic-marker-for-cardiac-abnormalities-in-thalassemia-major-patients
#20
Mable Misha Singh, Ravindra Kumar, Satyendra Tewari, Sarita Agarwal
OBJECTIVE: The aim of the study was to investigate the role of osteoprotegerin (OPG)/RANK/RANKL variants in left ventricular hypertrophy (LVH) and diastolic dysfunction in thalassemia major patients MATERIALS AND METHOD: One hundred and five beta-thalassemia patients who were older than 10 years of age were enrolled for the study. Two-dimensional and M-mode echocardiography analysis was done in all patients. Genotyping for OPG [rs2073617 (950 T>C), rs2073618 (1181G>C)], RANK [(rs1805034(+34694 C>T), rs12458117 (+34901 G>A) and rs75404003 (+35966insdelC)], and RANKL (rs2277438, rs9594782) variants was done using the PCR-RFLP method...
May 2017: Annals of Human Genetics
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