rs758786611

This variant is located in the MUC1 gene.

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ClinVar annotation

Conflicting Classifications
4 submitters1 publication

not provided; MUC1-related disorder; Inborn genetic diseases; Kidney failure

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Research that mentions this SNP (1)

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Polymorphisms in prostate stem cell antigen gene rs2294008 increase gastric cancer risk in Chinese
AssociationN=1,466Zhirong Zeng et al.(2011)· Molecular Carcinogenesis

Case-control study of 692 stomach cancer cases and 774 controls in a Chinese population found significant associations between four GWAS-identified SNPs and gastric cancer susceptibility: PSCA rs2294008 (OR=1.37, 95% CI=1.07-1.74), PSCA rs2976392 (OR=1.30, 95% CI=1.02-1.65), and PLCE1 rs2274223 (OR=1.48, 95% CI=1.15-1.90) increased risk, while MUC1 rs4072037 (OR=0.77, 95% CI=0.60-0.98) was protective. Subjects carrying 2-4 risk genotypes had significantly increased stomach cancer risk (OR=1.30, 95% CI=1.03-1.64).

Traits studied:Gastric cancerGastric cardia adenocarcinomaStomach cancer
PubMedDOIMetascience Observatory

About MUC1

This gene encodes a membrane-bound protein that is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces. These proteins also play a role in intracellular signaling. This protein is expressed on the apical surface of epithelial cells that line the mucosal surfaces of many different tissues including lung, breast stomach and pancreas. This protein is proteolytically cleaved into alpha and beta subunits that form a heterodimeric complex. The N-terminal alpha subunit functions in cell-adhesion and the C-terminal beta subunit is involved in cell signaling. Overexpression, aberrant intracellular localization, and changes in glycosylation of this protein have been associated with carcinomas. This gene is known to contain a highly polymorphic variable number tandem repeats (VNTR) domain. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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