Showing 10/1,228 articles
Intronic variant in RABEP1 associated with fasting glucose modulation under psychotropic drug treatment; G allele carriers show lower glucose levels, potentially reflecting altered endosomal trafficking of metabolic receptors
Intronic variant in WFS1 (wolframin) on chromosome 4q22, one of the earliest and most replicated common genetic risk factors for type 2 diabetes
Catalase promoter variant affecting hydrogen peroxide clearance and antioxidants defense capacity
Intergenic regulatory variant ~26 kb downstream of CALCB (calcitonin gene-related peptide beta) that is the first GWAS locus to directly implicate the CGRP-encoding gene region in migraine susceptibility; the minor A allele increases migraine risk and the variant is a cis-eQTL for CALCB — the direct molecular target of anti-CGRP monoclonal antibodies and gepants
Intronic variant in complement factor I associated with age-related macular degeneration risk through complement dysregulation
Upstream tagging SNP at the IL12B locus; the C allele is associated with increased susceptibility to psoriasis and other IL-12/IL-23-mediated autoimmune conditions
Intronic IL-23 receptor variant that increases susceptibility to ankylosing spondylitis and inflammatory bowel disease by enhancing IL-23/Th17 inflammatory signaling
Intronic variant in the intestinal and renal vitamin C transporter gene (SVCT1) associated with susceptibility to Crohn disease; the C allele (minor in Europeans, major in Africans) confers dose-dependent disease risk
L-type calcium channel gene variant affecting mood regulation, emotional processing, and psychiatric disorder risk
Intronic NEDD4L variant; the G allele associates with reduced blood pressure response to thiazide diuretics