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Sun MZ, Ju HX, Zhou ZW, et al. Single nucleotide polymorphisms of DNA mismatch repair genes MSH2 and MLH1 confer susceptibility to esophageal cancer. Int J Clin Exp Med. 2014;7(8):2329-33
Sun, M. Z., Ju, H. X., Zhou, Z. W., Jin, H., & Zhu, R. (2014). Single nucleotide polymorphisms of DNA mismatch repair genes MSH2 and MLH1 confer susceptibility to esophageal cancer. International journal of clinical and experimental medicine, 7(8), 2329-33.
Sun, Ming-Zhong, et al. "Single nucleotide polymorphisms of DNA mismatch repair genes MSH2 and MLH1 confer susceptibility to esophageal cancer." International journal of clinical and experimental medicine vol. 7,8 (2014): 2329-33.
Sun MZ, Ju HX, Zhou ZW, Jin H, Zhu R. Single nucleotide polymorphisms of DNA mismatch repair genes MSH2 and MLH1 confer susceptibility to esophageal cancer. Int J Clin Exp Med. 2014 Aug 15;7(8):2329-33. eCollection 2014. PMID: 25232430; PMCID: PMC4161590.
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Int J Clin Exp Med. 2014 Aug 15;7(8):2329-33. eCollection 2014.

Single nucleotide polymorphisms of DNA mismatch repair genes MSH2 and MLH1 confer susceptibility to esophageal cancer.

International journal of clinical and experimental medicine

Ming-Zhong Sun, Hui-Xiang Ju, Zhong-Wei Zhou, Hao Jin, Rong Zhu

Affiliations

  1. Department of Clinical Laboratory, Affiliated Yancheng Hospital, School of Medicine, Southeast University Yancheng 224001, Jiangsu, China.

PMID: 25232430 PMCID: PMC4161590

Abstract

Defects in DNA mismatch repair genes like MSH2 and MLH1 confer increased risk of cancers. Here, single nucleotide polymorphisms (SNPs) in MSH2 and MLH1 were investigated for their potential contribution to the risk of esophageal cancer. This study recruited 614 participants from Affiliated Yancheng Hospital, School of Medicine, Southeast University, of which 289 were patients with esophageal cancer, and the remainder was healthy individuals who served as a control group. Two SNPs, MSH2 c.2063T>G and MLH1 IVS14-19A>G, were genotyped using PCR-RFLP. Statistical analysis was performed using chi-square test and logistic regression analysis. Carriers of the MSH2 c.2063G allele were at significantly higher risk for esophageal cancer compared to individuals with the TT genotype [OR = 3.36, 95% confidence interval (CI): 1.18-11.03]. The MLH1 IVS14-19A>G allele also conferred significantly increased (1.70-fold) for esophageal cancer compared to the AA genotype (OR = 1.70, 95% CI: 1.13-5.06). Further, the variant alleles interacted such that individuals with the susceptible genotypes at both MSH2 and MLH1 had a significantly exacerbated risk for esophageal cancer (OR = 12.38, 95% CI: 3.09-63.11). In brief, SNPs in the DNA mismatch repair genes MSH2 and MLH1 increase the risk of esophageal cancer. Molecular investigations are needed to uncover the mechanism behind their interaction effect.

Keywords: DNA mismatch repair; Esophageal cancer; MLH1; MSH2; single nucleotide polymorphism

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