title: Association of genetic polymorphisms in PRKDC and XRCC4 with risk of ESCC in a high-incidence region of North China.
abstract: BACKGROUND
  The nonhomologous end-joining (NHEJ) pathway is the main mechanism repairing DNA double-strand breaks (DSBs) in human cells. This research was designed to study the association between selected variants in NHEJ members and esophageal squamous cell carcinoma (ESCC).
  
  
  METHODS
  Two single nucleotide polymorphisms (SNPs), PRKDC (rs7003908) and X-ray repair cross complementing group 4 (XRCC4; rs1805377), were genotyped in a total of 189 patients with ESCC and 189 unrelated control individuals in a high-risk area for ESCC in North China, and the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was applied.
  
  
  RESULTS
  A significantly different distribution was found in the frequency of PRKDC (rs7003908) genotype between the ESCC group and controls. Individuals homozygous for the C allele had a significant (3.185-fold) increased risk of ESCC. As for XRCC4 (rs1805377) polymorphism, no difference was found in distribution between the ESCC and control groups.
  
  
  CONCLUSIONS
  Our results suggest that variation in DNA repair genes may be associated with risk of ESCC.
authors.affiliation: Department of Gastroenterology, Qilu Hospital of Shandong University, Jinan - PR China.|Department of Gastroenterology, Shandong Qianfoshan Hospital Affiliated With Shandong University, Jinan - PR China.
authors.forename: Hong-Li
authors.initials: HL
authors.lastname: Yang
authors.affiliation: Shandong Provincial Mental Health Center, Jinan - PR China.
authors.forename: Dong-Dong
authors.initials: DD
authors.lastname: Qiao
authors.affiliation: Department of Gastroenterology, Shandong Qianfoshan Hospital Affiliated With Shandong University, Jinan - PR China.
authors.forename: Kun
authors.initials: K
authors.lastname: Li
authors.affiliation: Qingdao Sanatorium of Shandong Province, Qingdao - PR China.
authors.forename: Xiao-Li
authors.initials: XL
authors.lastname: Cheng
authors.affiliation: Department of Gastroenterology, Shandong Qianfoshan Hospital Affiliated With Shandong University, Jinan - PR China.
authors.forename: Jing
authors.initials: J
authors.lastname: Yang
authors.affiliation: Department of Gastroenterology, Shandong Qianfoshan Hospital Affiliated With Shandong University, Jinan - PR China.
authors.forename: Jian-Jian
authors.initials: JJ
authors.lastname: Zhao
authors.affiliation: Department of Gastroenterology, Shandong Qianfoshan Hospital Affiliated With Shandong University, Jinan - PR China.
authors.forename: Chang-Qing
authors.initials: CQ
authors.lastname: Xu
authors.affiliation: Department of Gastroenterology, Qilu Hospital of Shandong University, Jinan - PR China.
authors.forename: Yan-Qing
authors.initials: YQ
authors.lastname: Li
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics* / Q000706:statistics & numerical data*; D014408:Biomarkers, Tumor / Q000235:genetics; D002294:Carcinoma, Squamous Cell / Q000453:epidemiology* / Q000235:genetics*; D002681:China / Q000453:epidemiology; D059766:DNA End-Joining Repair / Q000235:genetics*; D051747:DNA-Activated Protein Kinase / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D004938:Esophageal Neoplasms / Q000453:epidemiology* / Q000235:genetics*; D000077277:Esophageal Squamous Cell Carcinoma; D005260:Female; D005838:Genotype; D006801:Humans; D015994:Incidence; D008297:Male; D008875:Middle Aged; D009687:Nuclear Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide
chemical_list: D014408:Biomarkers, Tumor; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C101467:XRCC4 protein, human; D051747:DNA-Activated Protein Kinase; C497263:PRKDC protein, human