Πλοήγηση ανά Θέμα "Genome-Wide Association Study"
Αποτελέσματα 1-20 από 39
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Bivariate genome-wide association meta-analysis of pediatric musculoskeletal traits reveals pleiotropic effects at the SREBF1/TOM1L2 locus
(2017)Bone mineral density is known to be a heritable, polygenic trait whereas genetic variants contributing to lean mass variation remain largely unknown. We estimated the shared SNP heritability and performed a bivariate GWAS ... -
CD33 rs3865444 as a risk factor for Parkinson's disease
(2021)Background: Alzheimer's (AD) and Parkinson's diseases (PD) share a few elements of their clinical, pathological and genetic backgrounds. The CD33 rs3865444 has emerged as a strong genetic locus associated with AD through ... -
Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores
(2021)Genetic discoveries of Alzheimer’s disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical ... -
Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations
(2021)Osteoarthritis affects over 300 million people worldwide. Here, we conduct a genome-wide association study meta-analysis across 826,690 individuals (177,517 with osteoarthritis) and identify 100 independently associated ... -
Deciphering the Role of the rs2651899, rs10166942, and rs11172113 Polymorphisms in Migraine: A Meta-Analysis
(2022)The genetic basis of migraine is rather complex. The rs2651899 in the PR/SET domain 16 (PRDM16) gene, the rs10166942 near the transient receptor potential cation channel subfamily M member 8 (TRPM8) gene, and the rs11172113 ... -
Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis
(2013)Primary sclerosing cholangitis (PSC) is a severe liver disease of unknown etiology leading to fibrotic destruction of the bile ducts and ultimately to the need for liver transplantation. We compared 3,789 PSC cases of ... -
Evaluation of 12 GWAS-drawn SNPs as biomarkers of rheumatoid arthritis response to TNF inhibitors. A potential SNP association with response to etanercept
(2019)Research in rheumatoid arthritis (RA) is increasingly focused on the discovery of biomarkers that could enable personalized treatments. The genetic biomarkers associated with the response to TNF inhibitors (TNFi) are among ... -
Evidence for genetic contribution to the increased risk of type 2 diabetes in schizophrenia
(2018)The epidemiologic link between schizophrenia (SCZ) and type 2 diabetes (T2D) remains poorly understood. Here, we investigate the presence and extent of a shared genetic background between SCZ and T2D using genome-wide ... -
Genetic sharing with cardiovascular disease risk factors and diabetes reveals novel bone mineral density loci
(2015)Bone Mineral Density (BMD) is a highly heritable trait, but genome-wide association studies have identified few genetic risk factors. Epidemiological studies suggest associations between BMD and several traits and diseases, ... -
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture
(2021)The genetic basis of Lewy body dementia (LBD) is not well understood. Here, we performed whole-genome sequencing in large cohorts of LBD cases and neurologically healthy controls to study the genetic architecture of this ... -
Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease: Evidence from the COURAGE-PD Consortium
(2022)Background and Objectives Considerable heterogeneity exists in the literature concerning genetic determinants of the age at onset (AAO) of Parkinson disease (PD), which could be attributed to a lack of well-powered replication ... -
A genome-wide association study identifies an osteoarthritis susceptibility locus on chromosome 7q22
(2010)Objective. To identify novel genes involved in osteoarthritis (OA), by means of a genome-wide association study. Methods. We tested 500,510 single-nucleotide polymorphisms (SNPs) in 1,341 Dutch Caucasian OA cases and 3,496 ... -
Genome-wide association study identifies candidate markers related to lincRNAs associated with male infertility in the Greek population
(2020)Background: Male infertility is currently one of the most common problems faced by couples worldwide. We performed a GWAS on Greek population and gathered statistically significant SNPs in order to investigate whether they ... -
Genomic diversity and population structure of three autochthonous Greek sheep breeds assessed with genome-wide DNA arrays
(2018)In the present study, genome-wide genotyping was applied to characterize the genetic diversity and population structure of three autochthonous Greek breeds: Boutsko, Karagouniko and Chios. Dairy sheep are among the most ... -
GWAR: Robust analysis and meta-analysis of genome-wide association studies
(2017)Motivation: In the context of genome-wide association studies (GWAS), there is a variety of statistical techniques in order to conduct the analysis, but, in most cases, the underlying genetic model is usually unknown. Under ... -
Identification of Chromosomal Regions Linked to Autism-Spectrum Disorders: A Meta-Analysis of Genome-Wide Linkage Scans
(2022)Background: Autism spectrum disorder (ASD) is a clinically and genetically heterogeneous group of pervasive neurodevelopmental disorders with a strong hereditary component. Although, genome-wide linkage scans (GWLS) and ... -
Identification of Chromosomal Regions Linked to Diabetic Nephropathy: A Meta-Analysis of Genome-Wide Linkage Scans
(2019)Aims: Diabetic nephropathy (DN) has become a serious public health problem. Genetic factors are involved in the pathogenesis of DN, but the exact mode of inheritance is still unknown. Genome-wide linkage scans (GWLS) have ... -
Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis
(2017)Background Restless legs syndrome is a prevalent chronic neurological disorder with potentially severe mental and physical health consequences. Clearer understanding of the underlying pathophysiology is needed to improve ... -
Identifying pri-miRNA transcription start sites
(2018)MicroRNAs (miRNAs) are small non-coding RNAs that can regulate gene expression playing vital role in nearly all biological pathways. Even though miRNAs have been intensely studied for more than two decades, information ... -
Investigating the genetic characteristics of CAD: Is there a role for myocardial perfusion imaging techniques?
(2022)Several environmental and genetic factors have been found to influence the development and progression of coronary artery disease (CAD). Although the effects of the environmental hazards on CAD pathophysiology are well ...