Showing 10/1,866 articles
MHC-region intronic variant tagging HLA-DRB1 shared epitope haplotypes; G allele is the primary GWAS signal for seropositive rheumatoid arthritis and polymyalgia rheumatica risk in Europeans
Strongest genetic risk factor for non-alcoholic fatty liver disease, progression to cirrhosis, and hepatocellular carcinoma
Synonymous variant in the folate transporter SLC19A1 — a haplotype tag linked to altered methotrexate response
Intronic GBA variant associated with REM sleep behavior disorder via lysosomal autophagy impairment; the T allele confers OR=2.09 for RBD in the largest GWAS of this condition to date
Regulatory tagging SNP in the 17q21 asthma locus that is the strongest eQTL for ORMDL3 in whole blood; the C allele increases ORMDL3 expression and confers childhood asthma and early wheeze susceptibility
Zinc transporter 8 variant affecting zinc loading into insulin granules, influencing insulin crystallization, secretion, and type 2 diabetes risk
Intronic ADIPOQ variant in LD with the promoter region; the minor A allele is associated with reduced circulating adiponectin in women and altered adiponectin dynamics during weight loss
Intronic FADS2 variant tagging the FADS1/FADS2 haplotype block; A allele carriers have reduced delta-6 desaturase activity, impairing conversion of dietary plant-based omega-3 (ALA) to EPA/DHA and omega-6 (LA) to arachidonic acid
Decreased function variant affecting warfarin, phenytoin, and NSAIDs
Promoter variant in the AGER gene that increases RAGE transcription approximately threefold, raising both membrane-bound and soluble RAGE; the elevated RAGE expression amplifies AGE-driven inflammatory signaling and is associated with diabetic microvascular complications and coronary artery ectasia