rs35121789

This variant is located in the HLA-DRB1 gene.

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ClinVar annotation

Likely Benign★☆☆☆
2 submitters

not provided; Clear cell carcinoma of kidney; Hepatocellular carcinoma; Adrenocortical carcinoma, hereditary; Familial pancreatic carcinoma; Malignant lymphoma, large B-cell, diffuse; Colon adenocarcinoma; Colorectal cancer; Familial cancer of breast; Nonpapillary renal cell carcinoma; Cervical cancer

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Research that mentions this SNP (1)

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Novel Risk Loci for Rheumatoid Arthritis in Han Chinese and Congruence With Risk Variants in Europeans
ReviewLei Jiang et al.(2014)· Arthritis & Rheumatology

This review examines the relationship between host genetic factors and the microbiome in rheumatoid arthritis (RA). The authors synthesize evidence that 349 SNPs identified through GWAS meta-analyses of >100,000 participants contribute to RA susceptibility, with 100 SNPs replicated. Key genetic loci include HLA-DRB1 (shared epitope), PTPN22, PADI4, STAT4, TNFAIP3, and CARD9. The review discusses how RA-associated genetic variants may influence disease pathogenesis through altered microbiome composition and immune responses to commensal taxa, particularly Prevotella copri and Porphyromonas gingivalis in the gut and oral microbiota.

Traits studied:Rheumatoid arthritisSeronegative RASeropositive RA
PubMedDOIMetascience Observatory

About HLA-DRB1

HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), 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. The beta chain is approximately 26-28 kDa. It is encoded by 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 DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and some alleles have increased frequencies associated with certain diseases or conditions. For example, DRB1*1302 has been related to acute and chronic hepatitis B virus persistence. There are multiple pseudogenes of this gene. [provided by RefSeq, Jul 2020]

View all HLA-DRB1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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