rs2274223

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).

[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

rs2274223 is a SNP in the PLCE1 gene. This SNP is associated with an increased risk for stomach and esophageal cancer.

The ''G'' allele was associated with an increased risk of squamous cell carcinoma of the head and neck (SCCHN) (AG vs. AA: adjusted OR=1.29, AG/GG vs. AA: adjusted OR=1.30) [R].

Gastric cancer patients carrying the AA genotype survived for a significantly shorter time than those carrying the AG and GG genotypes (log-rank P = 0.046). The AG/GG genotypes were associated with a significantly decreased risk of death from gastric cancer (adjusted hazard ratio (HR) = 0.79) [R].

''G'' allele increased the risk for esophageal squamous cell carcinoma (ESCC) by 1.22-fold [R].

A significant higher gastric adenocarcinoma risk was associated with ''G'' allele (adjusted OR = 1.35, for AG+GG vs. AA) [R]. 

AG genotype significantly increased risk of esophageal cancer compared to the AA genotypes [R].

The AG/GG genotype carriers with a family history of upper gastrointestinal cancers (UGIC) had an increased risk of esophageal squamous cell carcinoma (ESCC) than those AA genotype carriers without UGIC family history (OR = 2.10) [R]. 

The ''G'' allele was strongly associated with moderate to severe esophagitis in the subjects from the high-incidence areas (OR 6.03, in high-incidence area vs. OR 0.74, in low-incidence area; P = 0.008) [R]. 

Helicobacter pylori seropositivity and AG/GG genotypes (OR, 2.45) elevated the risk of gastric cancer (GC) the most [R]. 

A>G polymorphism was significantly associated with increased risk of digestive tract cancer (DTC) (GA vs. AA: OR = 1.21, P<0.001; GG vs. AA: OR = 1.30, P = 0.012; GG/GA vs. AA: OR = 1.20, P<0.001; GG vs. GA/AA: OR = 1.21, P = 0.040) [R].

Genotypes AG and AG/GG were significantly associated with HPV-positive patients with esophageal carcinoma (OR 2.05, and OR 1.98, respectively) [R].

A>G polymorphism was significantly associated with increased risk of cancer in log additive/dominant model and at allele level (GG vs. AA: OR = 1.24, P = 0.039; AG vs. AA: OR = 1.24, P < 0.001; AG + GG vs. AA: OR = 1.22, P < 0.001; and G vs. A allele: OR = 1.15, P = 0.002) [R]. 

 A > G to be key players in gallbladder cancer (GBC) (p < 0.001) [R].