Case Control Study
Copyright ©The Author(s) 2015. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. Jun 14, 2015; 21(22): 6898-6904
Published online Jun 14, 2015. doi: 10.3748/wjg.v21.i22.6898
Association of colorectal cancer susceptibility variants with esophageal cancer in a Chinese population
Ting-Ting Geng, Xiao-Jie Xun, Sen Li, Tian Feng, Li-Ping Wang, Tian-Bo Jin, Peng Hou
Ting-Ting Geng, Li-Ping Wang, Peng Hou, Department of Endocrinology, the First Affiliated Hospital of Xi’an Jiaotong University School of Medicine, Xi’an 710061, Shaanxi Province, China
Ting-Ting Geng, Xiao-Jie Xun, Tian Feng, Tian-Bo Jin, National Engineering Research Center for Miniaturized Detection Systems, Xi’an 710069, Shaanxi Province, China
Xiao-Jie Xun, Tian-Bo Jin, School of Life Sciences, Northwest University, Xi’an 710069, Shaanxi Province, China
Sen Li, School of Life Sciences, University of Liverpool, Crown Street, Liverpool L69 7ZB, United Kingdom
Author contributions: Geng TT and Xun XJ contributed equally to this work; Geng TT, Xun XJ, Jin TB and Hou P designed the research; Geng TT, Xun XJ and Li S performed the research; Feng T and Wang LP contributed new reagents/analytic tools and analyzed the data; Xun XJ wrote the paper; all authors approved the final version for publication.
Supported by National 863 High-Technology Research and Development Program, No. 2012AA02A519.
Ethics approval: The study was reviewed and approved by the Human Research Committee for Approval of Research Involving Human Subjects, The First Affiliated Hospital of the Medical College of Xi’an Jiaotong University.
Informed consent: All study participants, or their legal guardian, provided informed written consent prior to study enrollment.
Conflict-of-interest: The authors have no conflicts of interest related to this work.
Data sharing: No additional data are available.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Correspondence to: Peng Hou, PhD, Professor, Department of Endocrinology, the First Affiliated Hospital of Xi’an Jiaotong University School of Medicine, The Wild Goose Pagoda West Road No. 277, Xi’an 710061, Shaanxi Province, China. penghou1@163.com
Telephone: +86-29-88305769 Fax: +86-29-88305769
Received: December 17, 2014
Peer-review started: December 18, 2014
First decision: January 8, 2015
Revised: February 14, 2015
Accepted: March 12, 2015
Article in press: March 12, 2015
Published online: June 14, 2015
Abstract

AIM: To investigate the association between colorectal cancer (CRC) genetic susceptibility variants and esophageal cancer in a Chinese Han population.

METHODS: A case-control study was conducted including 360 esophageal cancer patients and 310 healthy controls. Thirty-one single-nucleotide polymorphisms (SNPs) associated with CRC risk from previous genome-wide association studies were analyzed. SNPs were genotyped using Sequenom Mass-ARRAY technology, and genotypic frequencies in controls were tested for departure from Hardy-Weinberg equilibrium using a Fisher’s exact test. The allelic frequencies were compared between cases and controls using a χ2 test. Associations between the SNPs and the risk of esophageal cancer were tested using various genetic models (codominant, dominant, recessive, overdominant, and additive). ORs and 95%CIs were calculated by unconditional logistic regression with adjustments for age and sex.

RESULTS: The minor alleles of rs1321311 and rs4444235 were associated with a 1.53-fold (95%CI: 1.15-2.06; P = 0.004) and 1.28-fold (95%CI: 1.03-1.60; P = 0.028) increased risk of esophageal cancer in the allelic model analysis, respectively. In the genetic model analysis, the C/C genotype of rs3802842 was associated with a reduced risk of esophageal cancer in the codominant model (OR = 0.52, 95%CI: 0.31-0.88; P = 0.033) and recessive model (OR = 0.55, 95%CI: 0.34-0.87; P = 0.010). The rs4939827 C/T-T/T genotype was associated with a 0.67-fold (95%CI: 0.46-0.98; P = 0.038) decreased esophageal cancer risk under the dominant model. In addition, rs6687758, rs1321311, and rs4444235 were associated with an increased risk. In particular, the T/T genotype of rs1321311 was associated with an 8.06-fold (95%CI: 1.96-33.07; P = 0.004) increased risk in the codominant model.

CONCLUSION: These results provide evidence that known genetic variants associated with CRC risk confer risk for esophageal cancer, and may bring risk for other digestive system tumors.

Keywords: Colorectal cancer, Esophageal cancer, Single-nucleotide polymorphism, Susceptibility

Core tip: This case-control study investigates the association between colorectal cancer susceptibility variants (single-nucleotide polymorphisms) and esophageal cancer in a Chinese Han population. The minor alleles of rs1321311 and rs4444235 were associated with a 1.53-fold and 1.28-fold increased risk of esophageal cancer in allelic model analysis, respectively. In the genetic model analysis, rs3802842 and rs4939827 were associated with a decreased esophageal cancer risk, whereas rs6687758 was associated with an increased risk. These results provide evidence that known genetic variants associated with colorectal cancer risk may also confer risk for esophageal cancer.