title: Genetic variants at 6p21, 10q23, 16q21 and 22q12 are associated with esophageal cancer risk in a Chinese Han population.
abstract: OBJECTIVE
  A number of recently published genome-wide association studies (GWAS) identified several genetic loci at 6p21, 10q23, 16q12 and 22q12 that were associated with digestive tract tumors, including esophageal cancer (EC). We conducted a case-control study in a Chinese Han population including 360 EC cases and 310 controls to evaluate whether these variants are related to EC susceptibility.
  
  
  METHODS
  All these SNPs were genotyped using Sequenom Mass-ARRAY technology. For each SNP, genotypic frequencies in controls were tested for departure from Hardy-Weinberg Equilibrium (HWE) using an exact test. A P-value of 0.05 was considered the threshold for statistical significance. We compared the allele frequencies of cases and controls using the chi-squared (χ(2)) test. Associations between the gene and the risk of esophagus cancer were tested using various genetic models (co-dominant, dominant, recessive, and log-additive) and analysis by SNP stats. Odds ratios and 95% confidence intervals (CIs) were calculated by unconditional logistic regression with adjustments for age and gender.
  
  
  RESULTS
  We found significant association with risk of EC for five reported SNPs, including rs2274223 in PLCE1 at 10q23 [odds ratio (OR) = 1.390; 95% confidence interval (CI) = 1.075-1.798], rs10484761 near UNC5CL at 6p21 (OR = 1.422, 95% CI = 1.014-1.994), rs4785204 in HEATR3 at 16q12 (OR = 1.427; 95% CI = 1.116-1.824), rs4822983 in CHEK2 at 22q12 (OR = 1.361, 95% CI = 1.052-1.762), and rs738722 in CHEK2 at 22q12 (OR = 1.343, 95% CI = 1.053-1.713).
  
  
  CONCLUSIONS
  Our findings, combined with previous studies, indicated that rs10484761 at 6p21, rs2274223 at 10q23, rs4785204 at 16q12, rs4822983 and rs738722 at 22q12 may be used as genetic biomarkers for EC susceptibility in Chinese Han population.
authors.affiliation: Thoracic Surgery, Shangluo Central Hospital Shangluo 726000, China.
authors.forename: Xiaobin
authors.initials: X
authors.lastname: Jia
authors.affiliation: Thoracic Surgery, Yulin No. 1 Hospital Yulin 718000, China.
authors.forename: Peng
authors.initials: P
authors.lastname: Liu
authors.affiliation: School of Life Sciences, Northwest University Xi'an 710069, China.
authors.forename: Mingxia
authors.initials: M
authors.lastname: Zhang
authors.affiliation: National Engineering Research Center for Miniaturized Detection Systems Xi'an 710069, China.
authors.forename: Tian
authors.initials: T
authors.lastname: Feng
authors.affiliation: Thoracic Surgery, Shangluo Central Hospital Shangluo 726000, China.
authors.forename: Hongtao
authors.initials: H
authors.lastname: Tang
authors.affiliation: Thoracic Surgery, Shangluo Central Hospital Shangluo 726000, China.
authors.forename: Zhigang
authors.initials: Z
authors.lastname: Tang
authors.affiliation: Thoracic Surgery, Shangluo Central Hospital Shangluo 726000, China.
authors.forename: Huaqian
authors.initials: H
authors.lastname: Zhao
authors.affiliation: School of Life Sciences, Northwest UniversityXi'an 710069, China; National Engineering Research Center for Miniaturized Detection SystemsXi'an 710069, China.
authors.forename: Tianbo
authors.initials: T
authors.lastname: Jin
keywords: Esophageal cancer; single nucleotide polymorphism; susceptibility