尿苷二磷酸葡萄糖醛酸转移酶1A7基因多态性与膀胱癌易感性的关系

目的 探讨尿苷二磷酸匍萄糖醛酸转移酶1A7(UGT1A7)基因多态性与膀胱癌易感性的关系.方法 以病例对照研究方法,应用半巢式PCR(SN-PCR)和等位基因特异性PCR(AS-PCR)分别检测208例膀胱癌患者和205例非肿瘤患者的UGT1A7基因多态性,对各基因型和等位基因单独或联合吸烟行为进行统计学分析.结果 膀胱癌组变异纯合基因型~*x/~*x(x=~*2,~*3,~*4)]的频率(20.7%)高于对照组(12.2%),差异有统计学意义P<0.05,OR=2.16(1.18～3.96)].膀胱癌组携带变异等位基因~*3的频率(27.9%)高于对照组(20.5%),差异有统计学意义P=0.009,OR=1.56(95%CI:1.12～2.18)].吸烟人群中,变异杂合基因型~*1/~*x(x=~*2,~*3,~*4)]或变异纯合基因型者与野生型者相比,膀胱癌组和对照组间差异有统计学意义,OR(95%CI)值分别为2.16(1.07～4.36)、2.64(1.02～6.80).UGT1A7基因多态性与膀胱癌病理分级和临床分期均无相关性(均P>0.05).结论 UGT1A7基因多态性与膀胱癌易感性有关,该基因多态性与吸烟行为在膀胱癌的发生中存在交互作用.

Association between genetic polymorphism of UGT1A7 and susceptibility of bladder cancer

Objective To investigate the association between genetic polymorphism of UGT1A7 and susceptibility of bladder cancer. Methods Based upon a case-control study, UGT1 A7 polymorphisms were determined by the semi-nested polyrnerase chain reaction (SN-PCR) and allele-specific polymerase chain reaction (AS-PCR) in 208 cases with bladder cancer and 205 non-tumor controls. Risks were evaluated by unconditional logistic regression analysis. Results The frequency of variant homozygous genotype in cases (20.7%) was higher than that in controls (12.2%) and the difference was statistically significant P < 0.05, OR = 2.16 (1.18-3.96)]. The frequency of variant allele ~*3 in cases was higher than that in controls (27.9%, 20.5% respectively) and the difference was statistically significant P=0.009, OR = 1.56 (95% CI: 1.12-2.18)]. The smokers with variant homozygous and heterozygous genotypes showed an increased risk of bladder cancer compared with those with wild genotype 2.16 (95% CI: 1.07-4.36), 2.64 (95% CI: 1.02-6.80) respectively]. There was no association between the UGT1A7 polymorphisms and the pathological grade and clinical stage of bladder cancer (both P > 0.05). Conclusion The genetic polymorphisms of UGT1 A7 are associated with the susceptibility of bladder cancer and have interactions with smoking in bladder carcinogenesis.