title: Esophageal cancer risk is associated with polymorphisms of DNA repair genes MSH2 and WRN in Chinese population.
abstract: BACKGROUND
  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.
  
  
  METHODS
  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).
  
  
  RESULTS
  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).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Biochemistry and Molecular Biology, West China School of Preclinical and Forensic Medicine, Sichuan University, Chengdu, China.
authors.forename: Ting
authors.initials: T
authors.lastname: Li
authors.forename: Qifeng
authors.initials: Q
authors.lastname: Suo
authors.forename: Dan
authors.initials: D
authors.lastname: He
authors.forename: Wenting
authors.initials: W
authors.lastname: Du
authors.forename: Mingming
authors.initials: M
authors.lastname: Yang
authors.forename: Xuejiao
authors.initials: X
authors.lastname: Fan
authors.forename: Ji
authors.initials: J
authors.lastname: Liu
mesh_terms: D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D004260:DNA Repair / Q000235:genetics*; D004938:Esophageal Neoplasms / Q000453:epidemiology / Q000235:genetics*; D005090:Exodeoxyribonucleases / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D051718:MutS Homolog 2 Protein / Q000235:genetics*; D016017:Odds Ratio; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011379:Prognosis; D053484:RecQ Helicases / Q000235:genetics*; D012307:Risk Factors; D000071657:Werner Syndrome Helicase
chemical_list: D005090:Exodeoxyribonucleases; C497172:MSH2 protein, human; D051718:MutS Homolog 2 Protein; D053484:RecQ Helicases; C098785:WRN protein, human; D000071657:Werner Syndrome Helicase