rs2274223

plus

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)

Reference

GRCh38 38.1/142

Chromosome

10

Position

94306584

Gene

PLCE1

is a	snp
is	mentioned by
dbSNP	rs2274223
dbSNP (classic)	rs2274223
ClinGen	rs2274223
ebi	rs2274223
HLI	rs2274223
Exac	rs2274223
Gnomad	rs2274223
Varsome	rs2274223
LitVar	rs2274223
Map	rs2274223
PheGenI	rs2274223
Biobank	rs2274223
1000 genomes	rs2274223
hgdp	rs2274223
ensembl	rs2274223
geneview	rs2274223
scholar	rs2274223
google	rs2274223
pharmgkb	rs2274223
gwascentral	rs2274223
openSNP	rs2274223
23andMe	rs2274223
SNPshot	rs2274223
SNPdbe	rs2274223
MSV3d	rs2274223
GWAS Ctlg	rs2274223

GMAF

0.2764

Max Magnitude

2.4

?

(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).

OMIM	133239
Desc
Variant
Related	also

[PMID 21689432 ] 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 22412849 ] 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 16385451 ] A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.

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

[PMID 21427165 ] 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

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

[PMID 23390063 ] 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 24069371 ] Helicobacter pylori Infection Synergizes with Three Inflammation-Related Genetic Variants in the GWASs to Increase Risk of Gastric Cancer in a Chinese Population

[PMID 24116107 ] 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 22805490 ] 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 25008389 ] 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 25992311 ] 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

ClinVar
Risk	Rs2274223(G;G)
Alt	Rs2274223(G;G)
Reference	Rs2274223(A;A)
Significance	Non-pathogenic
Disease	not specified Nephrotic syndrome
Variation	info
Gene	PLCE1
CLNDBN	not specified Nephrotic syndrome
Reversed	0
HGVS	NC_000010.10:g.96066341A>G
CLNSRC
CLNACC	RCV000250112.1, RCV000376111.1,

[PMID 30931333 ] PLCE1 Polymorphisms and Risk of Esophageal and Gastric Cancer in a Northwestern Chinese Population.

[PMID 32777176 ] Predictive model for risk of gastric cancer using genetic variants from genome-wide association studies and high-evidence meta-analysis.

[PMID 33162810 ] The PLCE1 rs2274223 variant is associated with the risk of laryngeal squamous cell carcinoma.