title: Replication of results of genome-wide association studies on esophageal squamous cell carcinoma susceptibility loci in a Korean population.
abstract: Two recent genome-wide association studies have identified that the rs2274223 single-nucleotide polymorphism inphospholipase C epsilon 1 and the single-nucleotide polymorphism rs13042395 in C20orf54 are involved in esophageal squamous cell carcinoma (ESCC) in Chinese populations. We hypothesized that genetic polymorphisms of phospholipase C epsilon 1 and C20orf54 are also associated with ESCC in a Korean population. The rs2274223 and rs13042395 genotyping was performed using high-resolution melting analysis. The rs2274223 GG genotype was significantly associated with an increased risk of ESCC (odds ratio [OR]=1.86, 95% confidence interval [CI]=1.08-3.25) compared with the rs2274223 AA genotype. The rs13042395 G allele showed a significantly decreased risk of ESCC in the younger age group (OR=0.71, 95% CI=0.52-0.97) and no significant association in the older group (OR=1.19, 95% CI=0.87-1.62). We observed that the rs2274223 polymorphism was associated with an increased risk of ESCC in this Korean case-control study and that age may modify the association between the rs13042395 polymorphism and the risk of ESCC.
authors.affiliation: Department of Public Health, Qingdao University Medical College, Qingdao, China.
authors.forename: J-M
authors.initials: JM
authors.lastname: Piao
authors.forename: M-H
authors.initials: MH
authors.lastname: Shin
authors.forename: H N
authors.initials: HN
authors.lastname: Kim
authors.forename: H-R
authors.initials: HR
authors.lastname: Song
authors.forename: S-S
authors.initials: SS
authors.lastname: Kweon
authors.forename: J-S
authors.initials: JS
authors.lastname: Choi
authors.forename: H-J
authors.initials: HJ
authors.lastname: Shim
authors.forename: J-E
authors.initials: JE
authors.lastname: Hwang
authors.forename: W-K
authors.initials: WK
authors.lastname: Bae
authors.forename: S-H
authors.initials: SH
authors.lastname: Kim
authors.forename: Y-D
authors.initials: YD
authors.lastname: Choi
authors.forename: L-H
authors.initials: LH
authors.lastname: Cui
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics; D002294:Carcinoma, Squamous Cell / Q000235:genetics*; D016022:Case-Control Studies; D004938:Esophageal Neoplasms / Q000235:genetics*; D000077277:Esophageal Squamous Cell Carcinoma; D005260:Female; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D008875:Middle Aged; D016017:Odds Ratio; D054801:Phosphoinositide Phospholipase C / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D015203:Reproducibility of Results; D056910:Republic of Korea; D012306:Risk
chemical_list: D026901:Membrane Transport Proteins; C548553:SLC52A3 protein, human; D054801:Phosphoinositide Phospholipase C; C423320:phospholipase C epsilon
keywords: C20orf54; PLCE1; South Korea; esophageal squamous cell carcinoma