摘要
目的 研究 NAD(P) H:醌氧化还原酶 1[NAD(P) H:quinone oxidoreductase 1,NQO1]C6 0 9T基因多态性与食管鳞状上皮癌 (esophageal squamous cell carcinoma,ESCC)发病风险的关系。方法应用聚合酶链反应 -限制性片段长度多态性方法检测 193例 ESCC患者及 14 1名正常对照的 NQO1C6 0 9T多态性位点的基因型。 结果 ESCC患者的突变型 (T)等位基因频率明显高于健康对照组 (χ2 =4 .86 ,P=0 .0 2 8)。ESCC患者的 NQO1C/ C和 C/ T基因型频率与健康对照组相比差异无显著性 (χ2 值分别为 2 .2 7和0 .12 7;P值分别为 0 .132和 0 .72 1) ,而 ESCC患者的 T/ T基因型频率明显高于对照组 (χ2 =4 .39,P=0 .0 36 )。与 NQO1C/ C及 C/ T基因型相比 ,T/ T基因型可明显增加患 ESCC的风险性 (校正 OR=1.81,95 % CI:1.0 4～ 3.15 ) ,且在有上消化道肿瘤家族史的患者中尤为明显 (校正 OR=2 .2 2 ,95 % CI:1.18～4 .17)。结论 对 NQO1C6 0 9T多态性位点的基因型检测可能对判断 ESCC高危个体具有指导意义。
Objective To investigate the association of the NAD(P)H:quinone oxidoreductase 1 (NQO1) C609T polymorphism with susceptibility to esophageal squamous cell carcinoma (ESCC) in a northern Chinese population. Methods The NQO1 C609T genotypes were determined by polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLP) analysis in 193 patients with ESCC and 141 unrelated healthy controls. Results The frequency of the T allele (null) among ESCC patients was significantly higher than that among healthy controls (χ2=4.86, P=0.028). The NQO1 C/C and C/T genotype distribution among ESCC patients was not significantly different from that among healthy controls (χ2=2.27 and 0.127; P=0.132 and 0.721, respectively). However, the T/T genotype frequency among ESCC patients was significantly higher than that among healthy controls (χ2=4.39, P=0.036). The NQO1 T/T genotype significantly increased the risk for developing ESCC, compared to the combination of C/C and C/T genotypes, with the adjusted odds ratio (OR) of 1.81 (95%CI:1.04-3.15). This increased susceptibility exhibited pronouncedly in patients with family history of upper gastrointestinal cancers (adjusted OR=2.22, 95%CI:1.18-4.17). Conclusion Determination of the NQO1 C609T genotype may be used as a stratification marker to predicate high-risk individuals for ESCC.
出处
《中华医学遗传学杂志》
CAS
CSCD
2003年第6期544-546,共3页
Chinese Journal of Medical Genetics
