{{Rsnum
|rsid=2274223
|Gene=PLCE1
|Chromosome=10
|position=96066341
|Orientation=plus
|GMAF=0.2764
|Assembly=GRCh37
|GenomeBuild=37.1
|dbSNPBuild=131
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}
{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 43.4 | 49.6 | 7.1
| HCB | 60.0 | 36.3 | 3.7
| JPT | 64.0 | 31.5 | 4.5
| YRI | 39.7 | 47.9 | 12.3
| ASW | 38.6 | 49.1 | 12.3
| CHB | 60.0 | 36.3 | 3.7
| CHD | 60.6 | 33.9 | 5.5
| GIH | 54.5 | 41.4 | 4.0
| LWK | 43.9 | 47.7 | 8.4
| MEX | 67.2 | 31.0 | 1.7
| MKK | 17.9 | 53.2 | 28.8
| TSI | 40.0 | 43.0 | 17.0
| HapMapRevision=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).[http://www.nature.com/ng/journal/vaop/ncurrent/ris/ng.648.ris]

In this same study [http://www.nature.com/ng/journal/vaop/ncurrent/ris/ng.648.ris], [[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
|id=133239
|rsnum=2274223
}}

{{PMID Auto
|PMID=21689432
|Title=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
|OA=1
}}

{{PMID Auto GWAS
|PMID=21642993
|Trait=None
|Title=Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations.
|RiskAllele=G
|Pval=4E-20
|OR=1.3400
|ORtxt=[1.26-1.42]
}}

{{PMID Auto
|PMID=21837401
|Title=Genetic variation in PLCE1 is associated with gastric cancer survival in a Chinese population
}}

{{PMID Auto
|PMID=22203178
|Title=Putatively Functional PLCE1 Variants and Susceptibility to Esophageal Squamous Cell Carcinoma (ESCC): A Case-Control Study in Eastern Chinese Populations
}}

{{PMID Auto
|PMID=22412849
|Title=Potentially Functional Variants of PLCE1 Identified by GWASs Contribute to Gastric Adenocarcinoma Susceptibility in an Eastern Chinese Population
|OA=1
}}

{{PMID Auto
|PMID=22744421
|Title=Replication study of PLCE1 and C20orf54 polymorphism and risk of esophageal cancer in a Chinese population
}}

{{PMID Auto
|PMID=16385451
|Title=A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
|OA=1
}}

{{PMID Auto
|PMID=20729852
|Title=A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma.
|OA=1
}}

{{PMID Auto
|PMID=21427165
|Title=Genetic variants at 1q22 and 10q23 reproducibly associated with gastric cancer susceptibility in a Chinese population.
|OA=1
}}

{{PMID Auto
|PMID=23079034
|Title=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
|gene=PLCE1
|aa_change=His1927Arg
|aa_change_short=H1927R
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2274223
|overall_frequency_n=3214
|overall_frequency_d=10106
|overall_frequency=0.318029
|n_genomes=37
|n_genomes_annotated=0
|n_haplomes=45
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.002
|genetests_testable=Y
|nblosum100=1
|autoscore=2
|n_web_uneval=1
}}

{{PMID Auto
|PMID=23151416
|Title=Genetic variants at 10q23 are associated with risk of head and neck cancer in a Chinese population
}}

{{PMID Auto
|PMID=23390063
|Title=A sequence variant in the phospholipase C epsilon C2 domain is associated with esophageal carcinoma and esophagitis
}}

{{PMID Auto
|PMID=23688607
|Title=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 Auto
|PMID=24069371
|Title=Helicobacter pylori Infection Synergizes with Three Inflammation-Related Genetic Variants in the GWASs to Increase Risk of Gastric Cancer in a Chinese Population
|OA=1
}}

{{PMID Auto
|PMID=24116107
|Title=Increased Risk of Developing Digestive Tract Cancer in Subjects Carrying the PLCE1 rs2274223 A&gt;G Polymorphism: Evidence from a Meta-Analysis
|OA=1
}}

{{PMID Auto
|PMID=24127316
|Title=Heterozygote of PLCE1 rs2274223 increases susceptibility to human papillomavirus infection in patients with esophageal carcinoma among the Kazakh populations
}}

{{PMID Auto
|PMID=22740136
|Title=Association of 10q23 with colorectal cancer in a Chinese population.
}}

{{PMID Auto
|PMID=22805490
|Title=Genetic variation in C20orf54, PLCE1 and MUC1 and the risk of upper gastrointestinal cancers in Caucasian populations.
|OA=1
}}

{{PMID Auto
|PMID=23797815
|Title=PLCE1 rs2274223 A&gt;G polymorphism and cancer risk: a meta-analysis.
}}

{{PMID Auto
|PMID=24863943
|Title=A multigenic approach to evaluate genetic variants of PLCE1, LXRs, MMPs, TIMP, and CYP genes in gallbladder cancer predisposition
}}

{{PMID Auto
|PMID=24935391
|Title=Phospholipase C Epsilon 1 (PLCE1 rs2274223A&gt;G, rs3765524C&gt;T and rs7922612C&gt;T) Polymorphisms and Esophageal Cancer Risk in the Kashmir Valley
}}

{{PMID Auto
|PMID=25139097
|Title=Role of novel and GWAS originated PLCE1 genetic variants in susceptibility and prognosis of esophageal cancer patients in northern Indian population
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}