Send to

Choose Destination
J Thorac Oncol. 2012 Feb;7(2):448-52. doi: 10.1097/JTO.0b013e31823c487a.

Esophageal cancer risk is associated with polymorphisms of DNA repair genes MSH2 and WRN in Chinese population.

Author information

Department of Biochemistry and Molecular Biology, West China School of Preclinical and Forensic Medicine, Sichuan University, Chengdu, China.



Normal function of DNA repair system is essential for the removal of damage induced by many kinds of internal and environmental agents. Genetic polymorphisms in DNA repair genes associated with modified repair capacity may be related to the risk of developing esophageal cancer (EC). This article dealt whether single-nucleotide polymorphisms of DNA repair genes MSH2, WRN, and Ku70 potentially contributed to EC susceptibility.


A hospital-based case-control study with 117 EC cases and 132 controls in a Chinese population was conducted. We genotyped three single-nucleotide polymorphisms MSH2 c.2063T>G, WRN c.4330T>C, and Ku70 c.-1310 C>G using polymerase chain reaction-based restriction fragment length polymorphism and then performed statistical analysis by calculating the adjusted odds ratios (OR) and 95% confidence intervals (95% CI).


Carriers of the MSH2 c.2063 G allele were at a higher risk of developing EC with the TT genotype as reference (OR = 4.53, 95% CI = 1.92-10.64, 33p = 0.001). Also for WRN c.4330T>C, individuals with at least one C allele (T/C or C/C) had a 2.21-fold increased risk for EC development compared with those who bore the T/T wild-type genotype (OR = 2.21, 95% CI = 1.06-4.59, 33p = 0.035). Moreover, statistically significant variant genotypic interaction was suggested between MSH2 and WRN as a result of a much increased predisposition to EC (33p = 0.016). No obvious correlation was observed between Ku70 c.-1310 CG and esophageal carcinogenesis (33p > 0.05).


Our findings indicated that genetic variants in DNA repair pathways may be involved in esophageal tumorigenesis. MSH2 c.2063 G allele and WRN c.4330 C allele, not Ku70 c.-1310 CG, conferred risk for the process of developing EC.

[Indexed for MEDLINE]
Free full text

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center