Gene: HLA-DPB1

Alternate names for this Gene: DPB1|HLA-DP|HLA-DP1B|HLA-DPB

Gene Summary: 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.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.32

Description of this Gene: major histocompatibility complex, class II, DP beta 1

Type of Gene: protein-coding

rs9277554 in HLA-DPB1 gene and Diabetes Mellitus, Insulin-Dependent PMID 17632545 2007 A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.

rs9277554 in HLA-DPB1 gene and Granulomatosis with polyangiitis PMID 23740775 2013 Association of granulomatosis with polyangiitis (Wegener's) with HLA-DPB1*04 and SEMA6A gene variants: evidence from genome-wide analysis.

rs1042544 in HLA-DPB1 gene and Hepatitis B PMID 23760081 2013 A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.

PMID 19349983 2009 A genome-wide association study identifies variants in the HLA-DP locus associated with chronic hepatitis B in Asians.

PMID 21750111 2011 A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.

PMID 22737229 2012 Genome-wide association study confirming association of HLA-DP with protection against chronic hepatitis B and viral clearance in Japanese and Korean.

PMID 24940741 2014 We found that rs9277535 (HLA-DPB1, P = 4.87×10(-14)), rs9276370 (HLA-DQA2, P = 1.9×10(-12)), rs7756516 and rs7453920 (HLA-DQB2, P = 1.48×10(-11) and P = 6.66×10(-15) respectively) were significantly associated with persistent HBV infection.

rs9277535 in HLA-DPB1 gene and Hepatitis B, Chronic PMID 25802187 2015 Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.

PMID 24940741 2014 A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.

rs9277535 in HLA-DPB1 gene and Liver carcinoma PMID 23242368 2013 Genetic variants in STAT4 and HLA-DQ genes confer risk of hepatitis B virus-related hepatocellular carcinoma.

rs9277552 in HLA-DPB1 gene and Osteoarthritis of hip PMID 30664745 2019 Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data.

rs9277552 in HLA-DPB1 gene and Osteoarthritis, Knee PMID 30664745 2019 Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data.

rs9277554 in HLA-DPB1 gene and Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis PMID 23740775 2013 Association of granulomatosis with polyangiitis (Wegener's) with HLA-DPB1*04 and SEMA6A gene variants: evidence from genome-wide analysis.

rs3128966 in HLA-DPB1 gene and Primary biliary cirrhosis PMID 21399635 2011 Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.

rs1042448 in HLA-DPB1 gene and Rheumatoid Arthritis PMID 21156761 2011 A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.

PMID 19503088 2009 REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.

PMID 17804836 2007 TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.

rs9277554 in HLA-DPB1 gene and Sjogren's Syndrome PMID 28076899 2017 Genome-Wide Association Analysis Reveals Genetic Heterogeneity of Sjögren's Syndrome According to Ancestry.

rs3128965 in HLA-DPB1 gene and Systemic Scleroderma PMID 19950302 2009 HLA-DPB1 and DPB2 are genetic loci for systemic sclerosis: a genome-wide association study in Koreans with replication in North Americans.

PMID 20383147 2010 Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.

rs9277535 in HLA-DPB1 gene and cervical cancer PMID 23817570 2013 A genome-wide association study identifies two new cervical cancer susceptibility loci at 4q12 and 17q12.