rs3128965
This is a downstream gene variant variant in the HLA-DPB1 gene.
▶Research that mentions this SNP (1)
▶HLA–DPB1 and DPB2 are genetic loci for systemic sclerosis: A genome‐wide association study in Koreans with replication in North AmericansAssociationN=5,555Xiaodong Zhou et al.(2009)· Arthritis & Rheumatism
A genome-wide association study (GWAS) in Korean systemic sclerosis (SSc) patients identified SNPs (rs3128930, rs7763822, rs7764491, rs3117230, rs3128965) in the HLA-DPB1 and HLA-DPB2 region significantly associated with SSc susceptibility (p = 8.16 × 10−13). In replication studies of 1,107 US Caucasian SSc patients, SNPs rs7763822 and rs7764491 showed strong associations with anti-topoisomerase I-positive patients (p = 7.58 × 10−17 and 4.84 × 10−16), while rs3128965 and rs3117230 were associated with anti-centromere antibody-positive patients (p = 3.2 × 10−5 and 1.12 × 10−3).
About HLA-DPB1
HLA-DPB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DPA) and a beta chain (DPB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DP molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to 4 different molecules. [provided by RefSeq, Jul 2008]
View all HLA-DPB1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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