rs7922612
This is a upstream gene variant variant in the PLCE1 gene.
▶Research that mentions this SNP (4)
▶Polymorphisms in prostate stem cell antigen gene rs2294008 increase gastric cancer risk in ChineseAssociationN=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).
▶Association of a common genetic variant in prostate stem‐cell antigen with gastric cancer susceptibility in a Korean populationAssociationN=1,466Hye‐Rim Song et al.(2011)· Molecular Carcinogenesis
A case-control study of 692 stomach cancer cases and 774 controls in a Han Chinese population examined associations of four GWAS-identified SNPs with gastric cancer susceptibility. PSCA rs2294008 (CT: OR=1.37, 95% CI=1.07-1.74), PSCA rs2976392 (AG: OR=1.30, 95% CI=1.02-1.65), and PLCE1 rs2274223 (AG: OR=1.48, 95% CI=1.15-1.90) were all significantly associated with increased stomach cancer risk, while MUC1 rs4072037 (CT: OR=0.77, 95% CI=0.60-0.98) was protective. Carriers of multiple risk genotypes had significantly elevated cancer risk.
▶Genetic variation of PSCA gene is associated with the risk of both diffuse‐ and intestinal‐type gastric cancer in a Chinese populationAssociationN=1,466Yan Lu et al.(2010)· International Journal of Cancer
Case-control study of 692 stomach cancer cases and 774 controls in Han Chinese examining associations between four GWAS-identified SNPs and gastric cancer risk. PSCA rs2294008 (OR=1.37), rs2976392 (OR=1.30), and PLCE1 rs2274223 (OR=1.48) showed increased risk, while MUC1 rs4072037 was protective (OR=0.77). Combined risk genotypes increased cancer susceptibility.
▶Association of prostate stem cell antigen gene polymorphisms with the risk of stomach cancer in JapaneseAssociationN=1,466Keitaro Matsuo et al.(2009)· International Journal of Cancer
Case-control study (692 cases, 774 controls) in Han Chinese population examining associations of four GWAS-identified SNPs with stomach cancer risk. PSCA rs2294008 (CT vs CC: OR=1.37, 95% CI=1.07-1.74), PSCA rs2976392 (AG vs GG: OR=1.30, 95% CI=1.02-1.65), and PLCE1 rs2274223 (AG vs AA: OR=1.48, 95% CI=1.15-1.90) were associated with increased stomach cancer risk, while MUC1 rs4072037 (CT vs TT: OR=0.77, 95% CI=0.60-0.98) was protective.
About PLCE1
This gene encodes a phospholipase enzyme that catalyzes the hydrolysis of phosphatidylinositol-4,5-bisphosphate to generate two second messengers: inositol 1,4,5-triphosphate (IP3) and diacylglycerol (DAG). These second messengers subsequently regulate various processes affecting cell growth, differentiation, and gene expression. This enzyme is regulated by small monomeric GTPases of the Ras and Rho families and by heterotrimeric G proteins. In addition to its phospholipase C catalytic activity, this enzyme has an N-terminal domain with guanine nucleotide exchange (GEF) activity. Mutations in this gene cause early-onset nephrotic syndrome; characterized by proteinuria, edema, and diffuse mesangial sclerosis or focal and segmental glomerulosclerosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 2009]
View all PLCE1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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