The multiple sclerosis risk allele within the AHI1 gene is associated with relapses in children and adults.
Sign Up to like & getrecommendations! Published in 2018 at "Multiple sclerosis and related disorders"
DOI: 10.1016/j.msard.2017.10.008
Abstract: BACKGROUND While common variant non-HLA (human leukocyte antigen) alleles have been associated with MS risk, their role in disease course is less clear. We sought to determine whether established multiple sclerosis (MS) genetic susceptibility factors… read more here.
Keywords: risk; risk allele; associated relapses; multiple sclerosis ... See more keywords
Association between genetic variants in the HIF1A-VEGF pathway and left ventricular regional myocardial deformation in patients with hypertrophic cardiomyopathy
Sign Up to like & getrecommendations! Published in 2020 at "Pediatric Research"
DOI: 10.1038/s41390-020-0929-z
Abstract: Background Information on genetic etiology of pediatric hypertrophic cardiomyopathy (HCM) rarely aids in risk stratification and prediction of disease onset. Little data exist on the association between genetic modifiers and phenotypic expression of myocardial performance,… read more here.
Keywords: myocardial deformation; risk; risk allele; association ... See more keywords
The multiple myeloma risk allele at 5q15 lowers ELL2 expression and increases ribosomal gene expression
Sign Up to like & getrecommendations! Published in 2018 at "Nature Communications"
DOI: 10.1038/s41467-018-04082-2
Abstract: Recently, we identified ELL2 as a susceptibility gene for multiple myeloma (MM). To understand its mechanism of action, we performed expression quantitative trait locus analysis in CD138+ plasma cells from 1630 MM patients from four… read more here.
Keywords: risk allele; multiple myeloma; ell2 expression; expression ... See more keywords
rs12603332 is associated with male asthma patients specifically in urban areas of Lahore, Pakistan
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Asthma"
DOI: 10.1080/02770903.2016.1277539
Abstract: ABSTRACT Objective: rs12603332, an important regulatory site variant, is known to alter the regulatory motif E2A that is involved in the maturation of B-lymphocytes. The study was designed to check whether different environmental exposures alter… read more here.
Keywords: rs12603332 associated; asthma patients; risk allele; associated male ... See more keywords
A Replication Study Identified Seven SNPs Associated with Quantitative Traits of Type 2 Diabetes Among Chinese Population (P18-079-19).
Sign Up to like & getrecommendations! Published in 2019 at "Current developments in nutrition"
DOI: 10.1093/cdn/nzz039.p18-079-19
Abstract: Objectives To explore genetic variants for quantitative traits of type 2 diabetes (T2D) such as insulin resistance and insulin release among Chinese adults. Methods A total of 2216 subjects were selected from cross-sectional 2010-2012 China… read more here.
Keywords: quantitative traits; insulin; type diabetes; traits type ... See more keywords
An inherited gain‐of‐function risk allele in EPOR predisposes to familial JAK2V617F myeloproliferative neoplasms
Sign Up to like & getrecommendations! Published in 2022 at "British Journal of Haematology"
DOI: 10.1111/bjh.18165
Abstract: Myeloproliferative neoplasms (MPN) are mainly sporadic but inherited variants have been associated with higher risk development. Here, we identified an EPOR variant (EPORP488S) in a large family diagnosed with JAK2V617F‐positive polycythaemia vera (PV) or essential… read more here.
Keywords: inherited gain; risk allele; gain function; function risk ... See more keywords
A psychiatric disorder risk polymorphism of ITIH3 is associated with multiple neuroimaging phenotypes in young healthy adults
Sign Up to like & getrecommendations! Published in 2022 at "Psychiatry and Clinical Neurosciences"
DOI: 10.1111/pcn.13347
Abstract: The inter-alpha-trypsin inhibitor heavy chain H3 (ITIH3) gene contains 24 exons and spans 14.2 kb of the genome. A large genome-wide association study (GWAS) suggested that the single-nucleotide polymorphism (SNP) rs2535629 (G/A, risk allele G)… read more here.
Keywords: risk allele; itih3; brain; risk ... See more keywords
Novel gene variants associated with cardiovascular disease in systemic lupus erythematosus and rheumatoid arthritis
Sign Up to like & getrecommendations! Published in 2018 at "Annals of the Rheumatic Diseases"
DOI: 10.1136/annrheumdis-2017-212614
Abstract: Objectives Patients with systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) have increased risk of cardiovascular disease (CVD). We investigated whether single nucleotide polymorphisms (SNPs) at autoimmunity risk loci were associated with CVD in SLE… read more here.
Keywords: risk; risk allele; sle; systemic lupus ... See more keywords
The STAT4 SLE risk allele rs7574865[T] is associated with increased IL-12-induced IFN-γ production in T cells from patients with SLE
Sign Up to like & getrecommendations! Published in 2018 at "Annals of the Rheumatic Diseases"
DOI: 10.1136/annrheumdis-2017-212794
Abstract: Objectives Genetic variants in the transcription factor STAT4 are associated with increased susceptibility to systemic lupus erythematosus (SLE) and a more severe disease phenotype. This study aimed to clarify how the SLE-associated intronic STAT4 risk… read more here.
Keywords: risk; risk allele; sle; ifn ... See more keywords
AB0153 Functional characterization of the sjögren’s syndrome-associated locus ddx6-cxcr5
Sign Up to like & getrecommendations! Published in 2018 at "Annals of the Rheumatic Diseases"
DOI: 10.1136/annrheumdis-2018-eular.3814
Abstract: Background Sjögren’s syndrome (SS) is a chronic, heterogeneous disease with hallmark features of auto-inflammation and autoantibody production. We previously identified association between the DDX6-CXCR5 locus and SS surpassing genome-wide significance. Objectives This study aims to… read more here.
Keywords: ddx6 cxcr5; cell; risk allele; region ... See more keywords
Novel phenotypes observed in patients with ETV6-linked leukaemia/familial thrombocytopenia syndrome and a biallelic ARID5B risk allele as leukaemogenic cofactor
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2019-106339
Abstract: Background. The phenotypes of patients with the recently discovered, dominant, ETV6-linked leukaemia predisposition and familial thrombocytopenia syndrome are variable, and the exact mechanism of leukaemogenesis remains unclear. Patients and Methods. Here, we present novel clinical… read more here.
Keywords: thrombocytopenia; risk allele; thrombocytopenia syndrome; familial thrombocytopenia ... See more keywords