XRCC3基因多态与乳头状甲状腺癌的遗传易感性

Genetic polymorphisms of XRCC3 and susceptibility of papillary thyroid carcinoma

目的探讨X-线交错互补修复基因3(XRCC3)多态与乳头状甲状腺癌(PTC)的关系。方法采用以医院为基础的病例对照研究设计,应用PCR-RFLP和PCR-SSP技术检测191例PTC患者和201例对照的XRCC3基因多态。结果在XRCC3基因A4541G、A17893G和C18067T多态位点,所有等位基因和基因型在病例组和对照组的分布均无统计学差异。在吸烟、饮酒和经常饮茶者中,4541G/G基因型使PTC的发病风险降低,其OR值分别为0.09(95%CI:0.02-0.51)、0.10(95%CI:0.04-1.00)和0.18(95%CI:0.05-0.68)。AAT单倍型在对照组的频率高于病例组,差异有统计学意义(P=0.014);以GAC单倍型为参照,AAT单倍型可使PTC发病风险降低,OR值为0.34(95%CI:0.11-0.92)。结论XRCC3基因A4541G、A17893G和C18067T多态与PTC无关联,但在吸烟、饮酒和常饮茶者中,4541G/G基因型可使PTC发病风险降低,是PTC的保护因素。AAT单倍型亦可降低PTC的发病风险。

Purpose To explore the association between the polymorphisms of the X-ray repair crosscomplementing gene 3 （XRCC3） and the papillary thyroid carcinoma （PTC）. Methods In a hospital based case control study, the three polymorphisms of XRCC3 for 191 cases with PTC and 201 controls were identified by PCR-RFLP and PCR-SSP. Results In the XRCC3, A4541G polymorphism located in the 5＇UTR, A17893G polymorphism located in the intron 5, and C18067T polymorphism located in the exon 7, which were not associated with PTC in general, But when the subsets of cigarette smoker, liquid drinker and frequent tea drinker were analysed, the ORs for the 4541G/G homozygotes were 0.09（95 %CI： 0.02 - 0.51）, 0.10 （95%CI： 0.04- 1.00） ,0, 18（95 %CI： 0, 05 - 0.68）, respectively, Six most frequent haplotypes accounted for almost 100% of all haplotypes. The haplotype AAT was associated with PTC, compared with GAC haplotype （OR= 0.34, 95%CI： 0.11 - 0.92, P= 0.014）, Conclusions The polymorphisms of A4541G, A17893G and C18067T in XRCC＇3 are not associated with PTC in general. Among the subjects with the habits of smoking, liquid drinking and frequent tea drinking, the 4541G/G genotype can decrease the risk of PTC as a protective factor. The haplotype AAT can also decrease the risk of PTC as a protective factor.