rs3129882
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 (3)
▶Meta‐analysis of Parkinson's Disease: Identification of a novel locus, RIT2Meta-analysisN=14,326Nathan Pankratz et al.(2012)· Annals of Neurology
Meta-analysis of five Parkinson disease GWAS studies (4,238 cases, 4,239 controls) identifying a novel susceptibility locus at RIT2 (rs12456492, OR=1.19, p=2×10⁻¹⁰). Multiple independent associations detected at SNCA (rs356220, rs356198), GBA (E326K and N370S variants), and other loci including GAK/DGKQ, MAPT, and HLA region. Results replicated in 3,738 cases and 2,111 controls.
▶Association of GWAS loci with PD in ChinaAssociationN=1,146Xue‐Li Chang et al.(2011)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Case-control study of 636 Parkinson's disease patients and 510 controls from mainland China investigating SNPs at four genome-wide association study loci. SNCA (rs894278, OR=1.33) and LRRK2 (rs2046932, OR=1.98) variants increased PD risk, while PARK16 variants (rs823156, OR=0.73; rs6532194, OR=0.60) reduced risk. BST1 SNPs showed no significant association.
▶Replication of MAPT and SNCA, but not PARK16‐18, as susceptibility genes for Parkinson's diseaseAssociationN=2,606Ignacio F. Mata et al.(2011)· Movement Disorders
This replication study of 1,445 Parkinson's disease patients and 1,161 controls from Northern Spain confirms MAPT (rs1800547, p=3.1×10⁻⁴, OR=0.79) and SNCA (rs356219, p=5.5×10⁻⁴, OR=1.23) as PD susceptibility genes, but fails to replicate PARK16, PARK17, and PARK18 loci (p values 0.09-0.88). The findings suggest that PARK16-18 may harbor population-specific effects or require larger sample sizes for detection in European-derived populations.
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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