Polymorphisms Of COMT And XPD With Risk Of Esophageal Squamous Cell Carcinoma In A Population Of Yili Prefecture, In Xinjiang, China

Objective: To evaluate the distribution and association with genetic polymorphisms in COMT Val158Met (rs4680) and XPD Asp312Asn (rs1799793), XPD Lys751Gln (rs13181) of esophageal squamous cell carcinoma (ESCC) risk in a population of Yili Prefecture, in Xinjiang, China. Methods: A hospital-based case-control study was designed with 566 samples, from 210 ESCC patients (51 of Kazakh,45 of Uygur and 114 of Han ethnics),356 control (86 of Kazakh,68 of Uygur and 202 of Han ethnics) with age, gender and ethnicity-matched subjects. Genotypes and alleles were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RLFP). Relative risk associated with a particular genotype or allele was estimated by calculating odds ratios (OR) along with 95% confidence intervals (CI). The OR and 95%CI were analyzed using unconditional logistic regression. Results: It was different on the frequencies of COMT Val158Met polymorphism between control and ESCC group of Kazakh ethnic (χ2=6.876,P=0.032). XPD Asp312Asn (rs1799793) of Han ethnic was associated with a risk of ESCC, meanwhile, it was associated with ESCC risk in Uygur ethnic(P<0.05). After revised age and gender, significant ESCC risk was observed for XPD Lys751Gln (rs 13181) frequency of presence Genotype (OR: 5.850,95%CI: 1.580-21.658) and C allele (OR: 1.423,95%CI: 1.009-1.979) in the three ethnics. The interactions of the individuals with the heterozygote and homozygote combined COMT 158 (Val/Met or Met/Met) genotype and XPD 751 (Lys/Gln or Gln/Gln) genotype, had increased ESCC risk, as compared with somebody carried wild type for both of these alleles (OR: 1.720,95%CI: 1.023-2.890). Conclusions: Polymorphic variation of COMT Val158Met, XPD Asp312Asn, XPD Lys751Gln genes may be genetic markers of ESCC risk in a population of Yili Prefecture, in Xinjiang, China.