rs2395182
This is a regulatory region variant variant in the HLA-DRA gene.
▶Research that mentions this SNP (2)
▶Variability in Ethanol Biodisposition in Whites Is Modulated by Polymorphisms in the Adh1b and Adh1c GenesReviewCarmen Martínez et al.(2010)· Hepatology
A comprehensive review of nutrigenetics and nutrigenomics examining how genetic variants influence individual responses to nutrients and dietary interventions. The paper discusses associations between numerous SNPs (rs9939609 in FTO, rs2287019 in GIPR, rs7903146 in TCF7L2, rs5219 in KCNJ11, and many others) and metabolic traits including obesity, type 2 diabetes, and other chronic diseases, along with epigenetic mechanisms by which phytochemicals (curcumin, resveratrol, lycopene) modulate gene expression. The review synthesizes current evidence for precision nutrition approaches tailored to individual genetic profiles.
▶Association of the HLA region with multiple sclerosis as confirmed by a genome screen using >10,000 SNPs on DNA chipsAssociationN=760René Gödde et al.(2005)· Journal of Molecular Medicine
A genome-wide association study of 100 multiple sclerosis (MS) patients and 100 controls using 11,555 SNPs on Affymetrix chips, with validation in 280 additional MS patients and 280 controls. The strongest association was rs2395182 on chromosome 6p21.32 (P ≈ 10^-14), located near the HLA-DRA gene and in linkage disequilibrium with the established HLA-DRB1*15/DRB1*16 locus. Multiple flanking SNPs (rs2213584, rs2227139, rs2395166) also showed significant associations, confirming the pivotal role of the HLA region in MS susceptibility.
About HLA-DRA
HLA-DRA is one of the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha and a beta chain, both anchored in the membrane. This molecule is expressed on the surface of various antigen presenting cells such as B lymphocytes, dendritic cells, and monocytes/macrophages, and plays a central role in the immune system and response by presenting peptides derived from extracellular proteins, in particular, pathogen-derived peptides to T cells. The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and the cytoplasmic tail. DRA does not have polymorphisms in the peptide binding part and acts as the sole alpha chain for DRB1, DRB3, DRB4 and DRB5. [provided by RefSeq, Aug 2020]
View all HLA-DRA variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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