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rs2274223

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 normal
(A;G) 2 1.5x increased risk for stomach & esophageal cancer (seen in Han Chinese)
(G;G) 2.4 1.9x increased risk for stomach & esophageal cancer (seen in Han Chinese)
ReferenceGRCh38 38.1/142
Chromosome10
Position94306584
GenePLCE1
is asnp
is mentioned by
dbSNPrs2274223
ebirs2274223
HLIrs2274223
Exacrs2274223
Varsomers2274223
Maprs2274223
PheGenIrs2274223
hapmaprs2274223
1000 genomesrs2274223
hgdprs2274223
ensemblrs2274223
gopubmedrs2274223
geneviewrs2274223
scholarrs2274223
googlers2274223
pharmgkbrs2274223
gwascentralrs2274223
openSNPrs2274223
23andMers2274223
23andMe allrs2274223
SNP Nexus

SNPshotrs2274223
SNPdbers2274223
MSV3drs2274223
GWAS Ctlgrs2274223
GMAF0.2764
Max Magnitude2.4
? (A;A) (A;G) (G;G) 28
rs2274223 is a SNP in the phospholipase C, epsilon 1 PLCE1 gene.

In a large study of Han Chinese esophageal cancer patients [specifically esophageal squamous cell carcinoma (ESCC)], the rs2274223(G) allele was associated with greater risk (odds ratio 1.43, p = 7.4 x 10e-56).[1]

In this same study [2], rs2274223(G) was also associated with greater risk for gastric cancer (aka stomach cancer), with an odds ratio of 1.55 (1.74 x 10e-39).

OMIM133239
Desc
Variant
Relatedalso
[PMID 21689432OA-icon.png] Association between novel PLCE1 variants identified in published esophageal cancer genome-wide association studies and risk of squamous cell carcinoma of the head and neck
GWAS snp
PMID [PMID 21642993]
Trait
Title Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations.
Risk Allele G
P-val 4E-20
Odds Ratio 1.3400 [1.26-1.42]


[PMID 21837401] Genetic variation in PLCE1 is associated with gastric cancer survival in a Chinese population


[PMID 22203178] Putatively Functional PLCE1 Variants and Susceptibility to Esophageal Squamous Cell Carcinoma (ESCC): A Case-Control Study in Eastern Chinese Populations


[PMID 22412849OA-icon.png] Potentially Functional Variants of PLCE1 Identified by GWASs Contribute to Gastric Adenocarcinoma Susceptibility in an Eastern Chinese Population


[PMID 22744421] Replication study of PLCE1 and C20orf54 polymorphism and risk of esophageal cancer in a Chinese population


[PMID 16385451OA-icon.png] A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.


[PMID 20729852OA-icon.png] A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma.


[PMID 21427165OA-icon.png] Genetic variants at 1q22 and 10q23 reproducibly associated with gastric cancer susceptibility in a Chinese population.


[PMID 23079034] PLC-ε1 Gene Polymorphisms Significantly Enhance the Risk of Esophageal Squamous Cell Carcinoma in Individuals with a Family History of Upper Gastrointestinal Cancers


GET Evidence
PLCE1-H1927R
aa_change His1927Arg
aa_change_short H1927R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.318029
summary



[PMID 23151416] Genetic variants at 10q23 are associated with risk of head and neck cancer in a Chinese population


[PMID 23390063OA-icon.png] A sequence variant in the phospholipase C epsilon C2 domain is associated with esophageal carcinoma and esophagitis


[PMID 23688607] Novel functional variants locus in PLCE1 and susceptibility to esophageal squamous cell carcinoma: Based on published genome-wide association studies in a central Chinese population


[PMID 24069371OA-icon.png] Helicobacter pylori Infection Synergizes with Three Inflammation-Related Genetic Variants in the GWASs to Increase Risk of Gastric Cancer in a Chinese Population


[PMID 24116107OA-icon.png] Increased Risk of Developing Digestive Tract Cancer in Subjects Carrying the PLCE1 rs2274223 A>G Polymorphism: Evidence from a Meta-Analysis


[PMID 24127316] Heterozygote of PLCE1 rs2274223 increases susceptibility to human papillomavirus infection in patients with esophageal carcinoma among the Kazakh populations


[PMID 22740136] Association of 10q23 with colorectal cancer in a Chinese population.


[PMID 22805490OA-icon.png] Genetic variation in C20orf54, PLCE1 and MUC1 and the risk of upper gastrointestinal cancers in Caucasian populations.


[PMID 23797815] PLCE1 rs2274223 A>G polymorphism and cancer risk: a meta-analysis.


[PMID 24863943] A multigenic approach to evaluate genetic variants of PLCE1, LXRs, MMPs, TIMP, and CYP genes in gallbladder cancer predisposition


[PMID 24935391] Phospholipase C Epsilon 1 (PLCE1 rs2274223A>G, rs3765524C>T and rs7922612C>T) Polymorphisms and Esophageal Cancer Risk in the Kashmir Valley


[PMID 25139097] Role of novel and GWAS originated PLCE1 genetic variants in susceptibility and prognosis of esophageal cancer patients in northern Indian population


[PMID 25503145] PSCA and MUC1 Gene Polymorphisms Are Linked with Gastric Cancer and Pre-malignant Gastric Conditions


[PMID 25008389OA-icon.png] HPV seropositivity joints with susceptibility loci identified in GWASs at apoptosis associated genes to increase the risk of Esophageal Squamous Cell Carcinoma (ESCC)


[PMID 25854357] PLCE1 Gene in Esophageal Cancer and Interaction with Environmental Factors


[PMID 25992311OA-icon.png] Genetic variants and risk of gastric cancer: a pathway analysis of a genome-wide association study


[PMID 26320491] Common Genetic Variants of PSCA, MUC1 and PLCE1 Genes are not Associated with Colorectal Cancer