rs9268645
This is a regulatory region variant variant in the HLA-DRA gene.
▶Research that mentions this SNP (2)
▶Functional relevance for multiple sclerosis-associated genetic variantsFunctionalXiang Lin et al.(2015)· Immunogenetics
Functional analysis of 284 MS-associated genetic variants using integrative approaches including GRAIL analysis, eQTL analysis, and differential gene expression. Identified 45 SNPs acting as cis-regulators on 19 MS-associated genes, with 6 key SNPs (rs3095329, rs9469220, rs2647046, rs11154801, rs1062158, rs7194) showing strong functional evidence via transcription factor binding sites or microRNA targets and differential expression in immune cells.
▶Investigation of genetic risk factors for chronic adult diseases for association with preterm birthAssociationN=1,792Nadia Falah et al.(2013)· Human Genetics
Case-control study of 673 preterm birth (PTB) cases vs 1,119 controls across four maternal cohorts testing 35 SNPs in cardiovascular, inflammatory, and metabolic disease genes. Found 13 statistically significant associations with PTB (P<0.05), more than expected by chance (binomial P=0.02). Most significant was HLA-DQA1 rs9272346 G allele protective effect in US White mothers (P=0.02, OR=0.65, 95% CI 0.46-0.94), which nominally replicated in Danish cohort (P=0.02, OR=0.85, 95% CI 0.75-0.97) but lost significance after correction for multiple testing.
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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