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Annals of Human Genetics

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https://www.readbyqxmd.com/read/29148569/exome-sequence-analysis-and-follow-up-genotyping-implicates-rare-ulk1-variants-to-be-involved-in-susceptibility-to-schizophrenia
#1
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...
November 17, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/29148567/silenced-dmbt1-promotes-nasal-mucosa-epithelial-cell-growth
#2
Xiaoqing Lu, Yaping Xu, Yu Zhao, Qilei Tao, Jian Wu
OBJECTIVE: The aim of this study was to investigate the role of the deleted in malignant brain tumors 1 (DMBT1) gene in the development of nasal polyps, as well as related mechanisms. METHODS: A stable human nasal mucosa epithelial cell (HNEpC) line with low expression of DMBT1 was generated. Three groups were established: a control group (HNEpCs without any treatment), a control short interference RNA (shRNA) group (HNEpCs transfected with an empty vector), and a DMBT1 shRNA group (HNEpCs with silenced DMBT1)...
November 17, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/29148562/recurrence-of-reported-cdh23-mutations-causing-dfnb12-in-a-special-cohort-of-south-indian-hearing-impaired-assortative-mating-families-an-evaluation
#3
Paridhy Vanniya S, Jayasankaran Chandru, Amritkumar Pavithra, Justin Margret Jeffrey, Murugesan Kalaimathi, Rajagopalan Ramakrishnan, Natarajan P Karthikeyen, Srisailapathy C R Srikumari
Mutations in CDH23 are known to cause autosomal-recessive nonsyndromic hearing loss (DFNB12). Until now, there was only one study describing its frequency in Indian population. We screened for CDH23 mutations to identify prevalent and recurring mutations among South Indian assortative mating hearing-impaired individuals who were identified as non-DFNB1 (GJB2 and GJB6). Whole-exome sequencing was performed in individuals found to be heterozygous for CDH23 to determine whether there was a second pathogenic allele...
November 17, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/29139108/a-3-untranslated-region-polymorphism-rs2304277-in-the-dna-repair-pathway-gene-ogg1-is-a-novel-risk-modulator-for-urothelial-bladder-carcinoma
#4
Tayyaba Ahmed, Saira Nawaz, Rabia Noreen, Kashif Sardar Bangash, Abdur Rauf, Muhammad Younis, Khursheed Anwar, Muhammad Athar Khawaja, Maleeha Azam, Abid Ali Qureshi, Saeed Akhter, Lambertus A Kiemeney, Raheel Qamar, Syeda Hafiza Benish Ali
Altered DNA repair capacity may affect an individual's susceptibility to cancers due to compromised genomic integrity. This study was designed to elucidate the association of selected polymorphisms in DNA repair genes with urothelial bladder carcinoma (UBC). OGG1 rs1052133 and rs2304277, XRCC1 rs1799782 and rs25487, XRCC3 rs861539, XPC rs2228001, and XPD rs13181 were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 200 UBC cases and 200 controls. We found association of OGG1 rs2304277 [odds ratio (OR)GG = 3...
November 15, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/29094765/parent-of-origin-environment-interactions-in-case-parent-triads-with-or-without-independent-controls
#5
Miriam Gjerdevik, Øystein A Haaland, Julia Romanowska, Rolv T Lie, Astanand Jugessur, Håkon K Gjessing
With case-parent triad data, one can frequently deduce parent of origin of the child's alleles. This allows a parent-of-origin (PoO) effect to be estimated as the ratio of relative risks associated with the alleles inherited from the mother and the father, respectively. A possible cause of PoO effects is DNA methylation, leading to genomic imprinting. Because environmental exposures may influence methylation patterns, gene-environment interaction studies should be extended to allow for interactions between PoO effects and environmental exposures (i...
November 2, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/29076129/the-mosaicc-study-assessing-feasibility-for-biological-sample-collection-in-epidemiology-studies-and-comparison-of-dna-yields-from-saliva-and-whole-blood-samples
#6
Glen James, Mary Frances McMullin, Andrew S Duncombe, Mike Clarke, Lesley A Anderson
Biological sample collection is becoming more common in epidemiology research to obtain DNA for genetic analysis. There are many different DNA collection methods but little evidence on their relative effectiveness. Therefore, we took the opportunity of a prospective case-control study in myeloproliferative neoplasms (MPNs) to compare DNA yield from 8.5 mL PAXgene tubes for whole blood collection versus 2 mL Oragene OG-500 saliva collection kits. MPNs include polycythaemia vera, essential thrombocythaemia, and primary myelofibrosis...
October 27, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/29059476/influence-of-apolipoprotein-e-polymorphism-on-susceptibility-of-wilson-disease
#7
Shubhrajit Roy, Kausik Ganguly, Prosenjit Pal, Sampurna Ghosh, Shyamal K Das, Prasanta K Gangopadhyay, Ashish Bavdekar, Kunal Ray, Mainak Sengupta, Jharna Ray
Wilson disease (WD) is an autosomal-recessive disorder caused by mutations in the ATP7B gene leading to abnormal copper deposition in liver and brain. WD manifests diverse neurological and hepatic phenotypes and different age of onset, even among the siblings, with same mutational background suggesting complex nature of the disease and involvement of other candidate genes. In that context, Apolipoprotein E (APOE) and Prion Protein (PRNP) have been proposed to be potential candidates for modifying the WD phenotype and age of onset...
October 23, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/29058319/how-many-cases-of-disease-in-a-pedigree-imply-familial-disease
#8
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...
October 23, 2017: 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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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/28653322/differentiating-the-cochran-armitage-trend-test-and-pearson-s-%C3%AF-2-test-location-and-dispersion
#15
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/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
#16
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
#17
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
#18
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
#19
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
#20
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
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