rs9277554

This is a downstream gene variant variant in the HLA-DPB1 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

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Research that mentions this SNP (1)

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Association of Granulomatosis With Polyangiitis (Wegener's) With HLA–DPB1*04 and SEMA6A Gene Variants: Evidence From Genome‐Wide Analysis
AssociationN=3,293Xie G. et al.(2013)· Arthritis &amp; Rheumatism

This genome-wide association study identified genetic determinants of granulomatosis with polyangiitis (GPA/Wegener's) in 987 cases and 2,731 controls. HLA-DPB1*04 and HLA-DPA1 variants accounted for 32 significant SNP associations in the HLA region, with peak signals at rs9277554 (HLA-DPB1) and rs9277341 (HLA-DPA1). An independent association was found at rs26595 near SEMA6A on chromosome 5, confirming the critical role of immunogenetic factors in GPA susceptibility.

Traits studied:ANCA-associated vasculitisEosinophilic granulomatosis with polyangiitisGranulomatosis with Polyangiitis (GPA)Microscopic polyangiitisWegener's granulomatosis
PubMedDOIMetascience Observatory

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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