rs7194
This variant is located in the HLA-DRA gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
▶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.
▶Diet-induced gene expression of isolated pancreatic islets from a polygenic mouse model of the metabolic syndromeFunctionalDreja T. et al.(2010)· Diabetologia
This functional study used New Zealand obese mice fed high-fat (HF) or carbohydrate-free high-fat (CHF) diets to identify candidate genes and pathways involved in diet-induced type 2 diabetes. Laser capture microdissection of pancreatic islets revealed 2,109 differentially expressed genes; 39 of these correlated with human genome-wide association studies (DGI and WTCCC), including validated hits such as IGF2BP2 and TSPAN8. The most significant finding was upregulation of oxidative phosphorylation genes in response to HF diet, implicating glucose-induced oxidative stress in beta cell failure.
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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