rs3765524

This is a variant in the PLCE1 gene that changes a threonine to an isoleucine.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

esophageal carcinoma

Abnet CC et al. “A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma.” Nature Genetics 42(9):764-7 (2010)
Allele T
OR 1.35
p 2.0e-9
N 5,623
Large GWAS
East Asian
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ClinVar annotation

Benign★★★☆
11 submitters2 publications

Focal segmental glomerulosclerosis (FSGS); Nephrotic syndrome, type 3 (NPHS3); not specified

View on ClinVar →
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Research that mentions this SNP (5)

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G‐A variant in miR‐200c binding site of EFNA1 alters susceptibility to gastric cancer
MethodsN=5,542Yingfei Li et al.(2014)· Molecular Carcinogenesis

Pathway analysis of a gastric cancer GWAS dataset using ICSNPathway identified 7 candidate SNPs (rs4745, rs12904, rs1801019, rs364897, rs11187870, rs2274223, rs3765524) in 4 genes (EFNA1, UMPS, GBA, PLCE1) and 12 biological pathways. Four hypothetical mechanisms were proposed: ephrin receptor binding via EFNA1, pyrimidine metabolism via UMPS, cyanoamino acid metabolism via GBA, and cell growth/lipid biosynthesis via PLCE1.

Traits studied:Gastric cancer
PubMedDOIMetascience Observatory
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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
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Association of a common genetic variant in prostate stem‐cell antigen with gastric cancer susceptibility in a Korean population
AssociationN=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.

Traits studied:Gastric cancerStomach cancer
PubMedDOIMetascience Observatory
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Genetic variation of PSCA gene is associated with the risk of both diffuse‐ and intestinal‐type gastric cancer in a Chinese population
AssociationN=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.

Traits studied:Gastric cancerStomach cancer
PubMedDOIMetascience Observatory
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Association of prostate stem cell antigen gene polymorphisms with the risk of stomach cancer in Japanese
AssociationN=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.

Traits studied:Gastric cancerStomach cancer
PubMedDOIMetascience Observatory

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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