Variants in multiple genes are associated with esophageal cancer risk in a Chinese Han population: A case–control study

Abstract

Background: The present study investigated whether 16 single nucleotide polymorphisms (SNPs), selected based on minor allele frequencies, Hardy-Weinberg equilibrium and reported SNPs related to the susceptibility of certain gastrointestinal cancer, were associated with esophageal cancer (EC) risk in a Chinese Han population. Methods: We genotyped 16 SNPs among 506 cases and 507 controls using Agena MassARRAY (Agena, San Diego, CA, USA). The association between 16 SNPs and EC risk was analyzed by a chi-squared test and genetic model analysis. Logistic regression analysis was used to calculate odds ratios (ORs) and 95% confidence intervals (CIs). Results: rs1050631 and the rs6214 were associated with a decreased EC risk (OR = 0.75, p = 0.038; OR = 0.74, p = 0.045, respectively). In stratification analysis, the rs9868873 was associated with an increased EC risk (age < 64 years) (OR = 5.03, p = 0.005). The rs6214 was associated with a decreased EC risk (age < 64 years) (OR = 0.59, p = 0.025). The rs861530 was significantly associated with a decreased EC risk (age ≥ 64 years) (OR = 0.67, p = 0.046). rs1050631 was associated with a decreased EC risk in males (OR = 0.71, p = 0.034). In the stratified analysis of clinical stage III/IV, the rs1800566 was associated with a decreased EC risk (OR = 0.49, p = 0.024). Finally, the rs1052133 was associated with an elevated EC risk in the stratified analysis of lymph node metastasis (OR = 1.73, p = 0.025). Conclusions: The findings of the present study demonstrate that SLC39A6, IGF1, SEMA5B, XRCC3, NQO1 and OGG1 polymorphisms were associated with EC risk under multiple models. K E Y W O R D S case-control study, Chinese Han population, esophageal cancer, genetic polymorphism 1 | INTRODUCTION Esophageal cancer (EC) is the sixth leading cause of cancer death worldwide. It is mainly divided into two main subtypes: esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma. 1 It is widely distributed among different countries, races and populations. 2,3 In China, the rates of EC vary greatly over geographic distances, and the mortality rate in some high-incidence areas is as high as 25%. 4 Its clinical manifestations are mainly progressive dysphagia; along with the progress of the disease, there will be symptoms of esophageal compression such as hoarseness and Horner syndrome. However, the diagnosis of most patients has already entered the

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