rs1012068

This variant is located in the DEPDC5 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 (2)

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PNPLA3 and TM6SF2 variants as risk factors of hepatocellular carcinoma across various etiologies and severity of underlying liver diseases
AssociationN=6,039Jie Yang et al.(2019)· International Journal of Cancer

This association study of 6039 European subjects (1020 HCC cases, 5019 controls including prospective cohorts) identified PNPLA3 rs738409 (OR=3.91, p=1.14E-09) and TM6SF2 rs58542926 (OR=1.79, p=0.001) as significant risk variants for hepatocellular carcinoma in alcoholic liver disease patients, with a dose-dependent additive effect. PNPLA3 rs738409 was also associated with HCC developed on non-fibrotic liver (OR=2.19, p=0.007), suggesting a direct carcinogenic role independent of cirrhosis.

Traits studied:Alcoholic liver diseaseCirrhosisHepatitis BHepatitis CHepatocellular carcinomaNon-alcoholic fatty liver disease
PubMedDOIMetascience Observatory
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DEPDC5 variants increase fibrosis progression in Europeans with chronic hepatitis C virus infection
AssociationN=1,139Maria Antonella Burza et al.(2016)· Hepatology

DEPDC5 rs1012068 is associated with liver fibrosis progression in Europeans with chronic HCV infection, with a 40% increased risk of cirrhosis (OR 1.40, 95% CI 1.08-1.81, P=0.011) and 50% increased risk of moderate/severe fibrosis (OR 1.52, 95% CI 1.09-2.12, P=0.015). Nonsynonymous DEPDC5 variants increased fibrosis risk by 54% (OR 1.54, P=0.040). MICA rs2596542 showed no association with HCC or cirrhosis in this European cohort. In vitro studies demonstrated DEPDC5 downregulation increases β-catenin expression and MMP2 production in hepatic stellate cells.

Traits studied:Chronic hepatitis CHepatocellular carcinomaLiver cirrhosisLiver fibrosis progression
PubMedDOIMetascience Observatory

About DEPDC5

This gene encodes a member of the IML1 family of proteins involved in G-protein signaling pathways. The mechanistic target of rapamycin complex 1 (mTORC1) pathway regulates cell growth by sensing the availability of nutrients. The protein encoded by this gene is a component of the GATOR1 (GAP activity toward Rags) complex which inhibits the amino acid-sensing branch of the mTORC1 pathway. Mutations in this gene are associated with autosomal dominant familial focal epilepsy with variable foci. A single nucleotide polymorphism in an intron of this gene has been associated with an increased risk of hepatocellular carcinoma in individuals with chronic hepatitis C virus infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

View all DEPDC5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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