title: Analysis of XPD genetic polymorphisms of esophageal squamous cell carcinoma in a population of Yili Prefecture, in Xinjiang, China.
abstract: To evaluate the association with genetic polymorphisms in Xeroderma pigmentosum complementation group D (XPD) gene of esophageal squamous cell carcinoma (ESCC) risk in a population of Yili Prefecture, in Xinjiang, China. A hospital-based case-control study was designed with 571 samples including 213 ESCC patients and 358 controls with age, gender and ethnicity-matched subjects (Kazakh, Uygur and Han ethnic). Genotypes were determined by PCR restriction fragment length polymorphism (PCR-RLFP) and confirmed by sequence. Relative risk associated with a particular genotype was estimated by calculating odds ratios (OR) along with 95% confidence intervals (CI). Significant ESCC risk was observed for XPD Lys751Gln (rs13181) frequency of presence C allele (OR: 1.409, 95% CI: 1.005-1.976) in the three ethnics. XPD Asp312Asn (rs1799793) of Han ethnic was associated with a borderline decrease of ESCC (OR: 0.362, 95% CI: 0.145-0.906), however, it was associated with ESCC risk in Uygur ethnic (OR: 2.403, 95% CI: 1.087-5.310). The results demonstrated an association between the XPD Lys751Gln (rs13181) for frequency of presence C allele and risk for ESCC in the three ethnics of Yili Prefecture, in Xinjiang, China. XPD Asp312Asn (rs1799793), which was associated with a borderline decrease of Han ethnic and risk of Uygur ethnic of ESCC, may play a different role in the three ethnics of ESCC.
authors.affiliation: Medical Research Center, the First Affiliated Hospital, Xinjiang Uygur Autonomous Region, Xinjiang Medical University, Urumqi, 830054, People's Republic of China.
authors.forename: Cong-Gai
authors.initials: CG
authors.lastname: Huang
authors.forename: Tao
authors.initials: T
authors.lastname: Liu
authors.forename: Guo-dong
authors.initials: GD
authors.lastname: Lv
authors.forename: Qing
authors.initials: Q
authors.lastname: Liu
authors.forename: Jun-guo
authors.initials: JG
authors.lastname: Feng
authors.forename: Xiao-mei
authors.initials: XM
authors.lastname: Lu
mesh_terms: D001483:Base Sequence; D002294:Carcinoma, Squamous Cell / Q000235:genetics*; D016022:Case-Control Studies; D002681:China; D017931:DNA Primers / Q000235:genetics; D004938:Esophageal Neoplasms / Q000208:ethnology / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008969:Molecular Sequence Data; D016017:Odds Ratio; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D017422:Sequence Analysis, DNA; D051759:Xeroderma Pigmentosum Group D Protein / Q000235:genetics*
chemical_list: D017931:DNA Primers; D051759:Xeroderma Pigmentosum Group D Protein; C497292:ERCC2 protein, human