XPD基因单核苷酸多态性与食管鳞状细胞癌、贲门腺癌发病风险的关联研究

目的：探讨DNA修复基因XPD第10外显子Asp312Asn及第23外显子Lys751Gln单核苷酸多态性（SNP）与河北省食管癌、贲门癌高发区磁县和涉县人群食管鳞状细胞癌（ESCC）、贲门腺癌（GCA）发病风险的关系。方法：采用聚合酶链反应．限制性片段长度多态性（PCR-RFLP）分析方法检测327例ESCC患者、253例GCA患者和612例健康对照的XPD基因第10外显子Asp312Asn及第23外显子Lys751Gln的SNP基因型，并比较不同基因型以及单体型与ESCC、GCA发病风险的关系。结果：ESCC、GCA患者组中消化道肿瘤家族史阳性个体比例明显高于对照组，上消化道肿瘤家族史可增加ESCC、GCA的发病风险（经性别、年龄、吸烟状况校正后的OR=1．80和1．75，95％CI=1．36～2．38和1．29～2．36）。根据吸烟状况和上消化道肿瘤家族史进行分层分析发现，与A／A基因型相比，携带C等位基因（A／C或C／C基因型）可显著降低非吸烟个体GCA的发病风险（经性别、年龄和上消化道肿瘤家族史校正后的OR=0．50，95％CI=0．26～0．98）。结论：XPD基因Asp312Asn、Lys751Gln SNP可能与河北省食管癌、贲门癌高发区磁县和涉县人群ESCC、GCA的发病风险无关，但分层分析发现携带第23外显子A／C或C／C基因型可能降低非吸烟个体GCA的发病风险。

Correlation between single nucleotide polymorphism of DNA repair gene XPD and the risks of esophageal squamous cell carcinoma and gastric cardiac adenocarcinoma

Objective:To investigate whether the single nucleotide polymorphism (SNP) of DNA repair gene XPD at exon 10 Asp312Asn and exon 23 Lys751Gln correlated with the risk of esophageal squamous cell carcinoma (ESCC) and gastric cardiac adenocarcinoma (GCA) in population at Ci County and She County, two high incidence regions of Hebei Province. Methods:SNPs of XPD at exon 10 Asp312Asn and exon 23 Lys751Gln were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis in 327 ESCC patients, 253 GCA patients and 612 healthy controls. The contributions of different genotypes to the risks of ESCC and GCA were compared and analyzed.Results:The number of the subjects with family history of upper gastrointestinal cancer (UGIC) in ESCC and GCA patients was significantly higher than that in healthy controls. Family history of UGIC might increase the risks of developing ESCC and GCA (age, gender and smoking status adjusted OR =1.80 and 1.75, 95% CI=1.36-2.38 and 1.29-2.36). When stratified for smoking status and family history of UGIC, compared with individuals with A/A genotype, individuals in non smoker group with A/C or C/C genotype had a reduced risk of developing GCA (age, gender and family history of UGIC adjusted OR=0.50, 95%CI=0.26-0.98). Conclusion: In the high incidence region of Hebei Province, Asp312Asn and Lys751Gln SNP may have no influence on the risk of ESCC and GCA, but when stratified by smoking status, A/C or C/C genotype at exon 23 may decrease the risk of developing GCA in non smoking population.