Medical Research Center, the First Affiliated Hospital, Xinjiang Uygur Autonomous Region, Xinjiang Medical University, Urumqi, 830054, People's Republic of China.
Mol Biol Rep. 2012 Jan;39(1):709-14. doi: 10.1007/s11033-011-0789-z. Epub 2011 May 7.
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.
为了评估 Xeroderma pigmentosum 互补组 D（XPD）基因遗传多态性与中国新疆伊犁地区食管鳞状细胞癌（ESCC）风险的相关性，进行了一项以医院为基础的病例对照研究，共有 571 例样本，包括 213 例 ESCC 患者和 358 例年龄、性别和种族匹配的对照（哈萨克族、维吾尔族和汉族）。通过聚合酶链反应限制性片段长度多态性（PCR-RLFP）和序列分析确定基因型。通过计算比值比（OR）及其 95％置信区间（CI），估计特定基因型的相对风险。在三个民族中，XPD Lys751Gln（rs13181）存在 C 等位基因的频率与 ESCC 显著相关（OR：1.409，95％CI：1.005-1.976）。汉族 XPD Asp312Asn（rs1799793）与 ESCC 风险呈临界降低相关（OR：0.362，95％CI：0.145-0.906），但与维吾尔族 ESCC 风险相关（OR：2.403，95％CI：1.087-5.310）。结果表明，在中国新疆伊犁地区，XPD Lys751Gln（rs13181）存在 C 等位基因的频率与 ESCC 风险之间存在相关性。XPD Asp312Asn（rs1799793）与汉族 ESCC 风险呈临界降低相关，与维吾尔族 ESCC 风险相关，可能在三个民族的 ESCC 中发挥不同的作用。
