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Annals of Human Genetics

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https://www.readbyqxmd.com/read/29663307/genome-wide-association-study-of-lncrna-polymorphisms-with-bone-mineral-density
#1
Qin Zeng, Ke-Hao Wu, Kun Liu, Yuan Hu, Xiang-Ding Chen, Lei Zhang, Hui Shen, Qin Tian, Lan-Juan Zhao, Hong-Wen Deng, Li-Jun Tan
Recent studies suggested that long noncoding RNAs (lncRNAs) were widely transcribed in the genome, but their potential roles in the genetic complexity of human disorders required further exploration. The purpose of the present study was to explore genetic polymorphisms of lncRNAs associated with bone mineral density (BMD) and its potential value. Based on the lncRNASNP database, 55,906 lncSNPs were selected to conduct a genome-wide association study meta-analysis among 11,140 individuals of seven independent studies for BMDs at femoral neck (FN), lumbar spine, and total hip (HIP)...
April 16, 2018: Annals of Human Genetics
https://www.readbyqxmd.com/read/29603120/analysis-of-sports-relevant-polymorphisms-in-a-large-brazilian-cohort-of-top-level-athletes
#2
João Paulo Limongi França Guilherme, Rômulo Bertuzzi, Adriano Eduardo Lima-Silva, Alexandre da Costa Pereira, Antonio Herbert Lancha Junior
In recent years, there have been an increasing number of genetic variants associated with athletic phenotypes. Here, we selected a set of sports-relevant polymorphisms that have been previously suggested as genetic markers for human physical performance, and we examined their association with athletic status in a large cohort of Brazilians. We evaluated a sample of 1,622 individuals, in which 966 were nonathletes, and 656 were athletes: 328 endurance athletes and 328 power athletes. Only the AGT M268T minor allele was nominally associated with the endurance status...
March 30, 2018: Annals of Human Genetics
https://www.readbyqxmd.com/read/29574679/in-silico-characterization-of-functional-single-nucleotide-polymorphisms-of-folate-pathway-genes
#3
Manik Vohra, Anu Radha Sharma, Bobby Paul, Manoj K Bhat, Kapaettu Satyamoorthy, Padmalatha S Rai
Folate metabolism genes are pivotal to critical biological processes and are related to several conditions, including developmental, cognitive, and cardiovascular anomalies. A systematic catalog of genetic polymorphisms in protein coding regions, regulatory transcription factor binding sites, and miRNA binding sites associated with folate pathway genes may contribute to personalized medicine. We performed a comprehensive computational survey of single nucleotide polymorphisms (SNPs) of folate pathway genes to highlight functional polymorphisms in the coding region, transcription factor binding sites, and miRNAs binding sites...
March 25, 2018: Annals of Human Genetics
https://www.readbyqxmd.com/read/29521412/genetic-relatedness-of-indigenous-ethnic-groups-in-northern-borneo-to-neighboring-populations-from-southeast-asia-as-inferred-from-genome-wide-snp-data
#4
Chee Wei Yew, Mohd Zahirul Hoque, Jacqueline Pugh-Kitingan, Alexander Minsong, Christopher Lok Yung Voo, Julian Ransangan, Sophia Tiek Ying Lau, Xu Wang, Woei Yuh Saw, Rick Twee-Hee Ong, Yik-Ying Teo, Shuhua Xu, Boon-Peng Hoh, Maude E Phipps, S Vijay Kumar
The region of northern Borneo is home to the current state of Sabah, Malaysia. It is located closest to the southern Philippine islands and may have served as a viaduct for ancient human migration onto or off of Borneo Island. In this study, five indigenous ethnic groups from Sabah were subjected to genome-wide SNP genotyping. These individuals represent the "North Borneo"-speaking group of the great Austronesian family. They have traditionally resided in the inland region of Sabah. The dataset was merged with public datasets, and the genetic relatedness of these groups to neighboring populations from the islands of Southeast Asia, mainland Southeast Asia and southern China was inferred...
March 9, 2018: Annals of Human Genetics
https://www.readbyqxmd.com/read/29484647/gene-based-evaluation-of-low-frequency-variation-and-genetically-predicted-gene-expression-impacting-risk-of-keloid-formation
#5
Jacklyn N Hellwege, Shirley B Russell, Scott M Williams, Todd L Edwards, Digna R Velez Edwards
Keloids are benign dermal tumors occurring approximately 20 times more often in individuals of African descent as compared to individuals of European descent. While most keloids occur sporadically, a genetic predisposition is supported by both familial aggregation of some keloids and large differences in risk among populations. Despite Africans and African Americans being at increased risk over lighter-skinned individuals, little genetic research exists into this phenotype. Using a combination of admixture mapping and exome analysis, we reported multiple common variants within chr15q21...
February 27, 2018: Annals of Human Genetics
https://www.readbyqxmd.com/read/29430628/association-between-golgb1-tag-polymorphisms-and-nonsyndromic-cleft-palate-only-in-the-brazilian-population
#6
Renato Assis Machado, Hercílio Martelli-Júnior, Silvia Regina de Almeida Reis, Darlene Camati Persuhn, Ricardo D Coletta
Nonsyndromic oral clefts are common congenital birth defects that exhibit variable prevalence around the world, often influenced by population-dependent genetic predisposition. Few studies have been performed with nonsyndromic cleft palate only (NSCPO), limiting the knowledge of the genetic risk factors related to this type of oral cleft. Genetic variants in golgin subfamily B member 1 (GOLGB1), a gene that is essential for normal murine palatogenesis, were analyzed in this study to establish its potential association with NSCPO risk in the Brazilian population...
February 12, 2018: Annals of Human Genetics
https://www.readbyqxmd.com/read/29430627/a-novel-homozygous-missense-variant-in-nectin4-pvrl4-causing-ectodermal-dysplasia-cutaneous-syndactyly-syndrome
#7
Farooq Ahmad, Abdul Nasir, Holger Thiele, Muhammad Umair, Guntram Borck, Wasim Ahmad
Ectodermal dysplasia syndactyly syndrome 1 (EDSS1) is a rare form of ectodermal dysplasia including anomalies of hair, nails, and teeth along with bilateral cutaneous syndactyly of hands and feet. In the present report, we performed a clinical and genetic characterization of a consanguineous Pakistani family with four individuals affected by EDSS1. We performed exome sequencing using DNA of one affected individual. Exome data analysis identified a novel homozygous missense variant (c.242T>C; p.(Leu81Pro)) in NECTIN4 (PVRL4)...
February 12, 2018: Annals of Human Genetics
https://www.readbyqxmd.com/read/29405268/effectiveness-of-shrinkage-and-variable-selection-methods-for-the-prediction-of-complex-human-traits-using-data-from-distantly-related-individuals
#8
(no author information available yet)
No abstract text is available yet for this article.
March 2018: Annals of Human Genetics
https://www.readbyqxmd.com/read/29250767/fast-permutation-tests-and-related-methods-for-association-between-rare-variants-and-binary-outcomes
#9
Arjun Sondhi, Kenneth Martin Rice
In large-scale genetic studies, a primary aim is to test for an association between genetic variants and a disease outcome. The variants of interest are often rare and appear with low frequency among subjects. In this situation, statistical tests based on standard asymptotic results do not adequately control the type I error rate, especially if the case : control ratio is unbalanced. In this article, we propose the use of permutation and approximate unconditional tests for testing association with rare variants...
March 2018: Annals of Human Genetics
https://www.readbyqxmd.com/read/29148569/exome-sequence-analysis-and-follow-up-genotyping-implicates-rare-ulk1-variants-to-be-involved-in-susceptibility-to-schizophrenia
#10
Mariam M Al Eissa, Alessia Fiorentino, Sally I Sharp, Niamh L O'Brien, Kate Wolfe, Giovanni Giaroli, David Curtis, Nicholas J Bass, Andrew McQuillin
Schizophrenia (SCZ) is a severe, highly heritable psychiatric disorder. Elucidation of the genetic architecture of the disorder will facilitate greater understanding of the altered underlying neurobiological mechanisms. The aim of this study was to identify likely aetiological variants in subjects affected with SCZ. Exome sequence data from a SCZ cas-control sample from Sweden was analysed for likely aetiological variants using a weighted burden test. Suggestive evidence implicated the UNC-51-like kinase (ULK1) gene, and it was observed that four rare variants that were more common in the Swedish SCZ cases were also more common in UK10K SCZ cases, as compared to obesity cases...
March 2018: Annals of Human Genetics
https://www.readbyqxmd.com/read/29058319/how-many-cases-of-disease-in-a-pedigree-imply-familial-disease
#11
Frank Dudbridge, Suzanne J Brown, Lynley Ward, Scott G Wilson, John P Walsh
The ability to perform whole-exome and, increasingly, whole-genome sequencing on large numbers of individuals has led to increased efforts to identify rare genetic variants that affect the risk of both common and rare diseases. In such applications, it is important to identify families that are segregating the rare variants of interest. For rare diseases or rare familial forms of common diseases, pedigrees with multiple affected members are clearly harbouring risk variants. For more common diseases, however, it may be unclear whether a family with a few affected members is segregating a familial disease, is the result of multiple sporadic cases, or is a mixture of familial cases and phenocopies...
March 2018: Annals of Human Genetics
https://www.readbyqxmd.com/read/29322508/a-novel-homozygous-variant-in-bmpr1b-underlies-acromesomelic-dysplasia-hunter-thompson-type
#12
Asmat Ullah, Muhammad Umair, Dost Muhammad, Muhammad Bilal, Kwanghyuk Lee, Suzanne M Leal, Wasim Ahmad
Acromesomelic dysplasia is genetically heterogeneous group of skeletal disorders characterized by short stature and acromelia and mesomelia of limbs. Acromesomelic dysplasia segregates in an autosomal recessive pattern and is caused by biallelic sequence variants in three genes (NPR2, GDF5, and BMPR1B). A consanguineous family of Pakistani origin segregating a subtype of acromesomelic dysplasia called Hunter-Thompson was clinically and genetically evaluated. Genotyping of microsatellite markers and linkage analysis revealed a 7...
January 10, 2018: Annals of Human Genetics
https://www.readbyqxmd.com/read/29322490/the-rs75932628-and-rs2234253-polymorphisms-of-the-trem2-gene-were-associated-with-susceptibility-to-frontotemporal-lobar-degeneration-in-caucasian-populations
#13
Wen-Hua Su, Zhi-Hong Shi, Shu-Ling Liu, Xiao-Dan Wang, Shuai Liu, Yong Ji
Polymorphisms of the triggering receptor expressed on myeloid cells 2 (TREM2) gene have been reported to be potentially associated with the risks of developing frontotemporal lobar degeneration (FTLD), with inconsistent conclusions. This study aims to comprehensively investigate the potential role of TREM2 variants in FTLD risks via a meta-analysis. We included a total of eight eligible articles. For TREM2 rs75932628, we observed a significantly increased FTLD risk in the models of T vs. C [Association Test, odds ratio (OR) = 2...
January 10, 2018: Annals of Human Genetics
https://www.readbyqxmd.com/read/29297929/increased-expression-of-prkcb-mrna-in-peripheral-blood-mononuclear-cells-from-patients-with-systemic-lupus-erythematosus
#14
Zhengwei Zhu, Lulu Yang, Yaohua Zhang, Lu Liu, Yan Huang, Leilei Wen, Chao Yang, Liyun Chen, Wenjun Wang, Xianbo Zuo, Fusheng Zhou, Hongyan Wang, Huayang Tang, Xuejun Zhang, Sen Yang, Yujun Sheng, Yong Cui
The polymorphism of PRKCB has been proven to be associated with systemic lupus erythematosus (SLE) in our previous study. We aimed to investigate the relationship between expression of PRKCB mRNA and the Disease Activity Index (SLEDAI) and manifestations of SLE. Quantitative reverse transcription polymerase chain reaction (RT-PCR) was applied to examine the expression of PRKCB mRNA in peripheral blood mononuclear cells of 60 patients with SLE and 62 controls. The Sequenom MassArray System was used to detect genotype SNP rs16972959...
January 3, 2018: Annals of Human Genetics
https://www.readbyqxmd.com/read/29265235/corrigendum
#15
(no author information available yet)
No abstract text is available yet for this article.
January 2018: Annals of Human Genetics
https://www.readbyqxmd.com/read/29044474/exome-sequencing-identifies-a-novel-nonsense-mutation-of-myo6-as-the-cause-of-deafness-in-a-brazilian-family
#16
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...
January 2018: Annals of Human Genetics
https://www.readbyqxmd.com/read/28940454/choledochal-cyst-with-17q12-chromosomal-duplication
#17
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...
January 2018: 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
#18
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)...
January 2018: 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
#19
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...
January 2018: 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
#20
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...
January 2018: Annals of Human Genetics
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