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X线交错互补修复基因1多态与乳头状甲状腺癌的遗传易感性 被引量:8

Genetic polymorphisms in X-ray repair cross-complementing gene 1 and susceptibility to papillary thyroid carcinoma
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摘要 目的 探讨X线交错互补修复基因1(XRCC1)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配对病例对照研究设计,应用聚合酶链反应-限制性片段长度多态性技术检测105对病例和对照的XRCC1基因多态。结果 病例组和对照组XRCC1第194密码子的Arg/Arg、Arg/Trp和Trp/Trp基因型频率分别为47.6%、49.5%、2.9%和45.7%、48.6%、5.7%,两组差异无显著性(Y^2=1.07,P=0.59)。病例组和对照组第399密码子的Arg/Arg、Arg/Gin和Gln/Gln基因型频率分别为46.7%、41.9%、11.4%和54.2%、42.9%、2.9%,两组差异有显著性(X^2=6.40,P=0.04)。以Arg/Arg基因型为参照,Gln/Gln基因型者发生PTC的风险增加,OR值为4.65(95%CI:1.24~17.45)。多因素条件logistic回归分析表明,第399密码子基因多态和负性生活事件与PTC存在正关联,OR值分别为2.71(95%CI:1.22~6.05)和5.34(95%CI:1.40~20.38);X线照射史与PTC存在负关联,OR值为0.38(95%CI:0.12~0.72);未发现第194密码子基因多态、饮茶、水果和经济水平与PTC存在关联。结论XRCC1第399密码子Gln/Gln基因型可能是PTC的易感基因型,负性生活事件是PTC的可能危险因素,X线照射史是PTC的可能保护因素。 Objective To study the association of polymorphisms in the X-ray repair cross-complementing gene 1 (XRCC1) and papillary thyroid carcinoma (PTC). Methods A hospital based, matched case-control study was carried out. The polymorphisms in XRCC1 for 105 pairs of cases with PTC and controls were identified by PCR-RFLP. Results The frequencies of Arg/Arg, Arg/Trp and Trp/Trp genotypes at XRCC1 Arg194Trp site were 47.6 %, 49.5 % and 2.9 % among cases compared to 45.7 %, 48.6 % and 5.7 % among controls. There was no statistically significant difference between the two groups (χ~2=1.07, P=0.59). The frequencies of Arg/Arg, Arg/Gln and Gln/Gln genotypes at XRCC1 Arg399Gln site were 46.7% ,41.9% and 11.4% among cases,while 54.2% ,42.9% and 2.9% among controls respectively. There was statistically significant difference between the two groups (χ~2=6.40, P=0.04). Individuals with Gln/Gln genotype had a 3.65-fold increased risk of developing PTC compared to Arg/Arg genotype (OR=4.65,95% CI: 1.24-17.45 ). The multivariate conditional logistic regression analysis showed that the XRCC1 Arg399Gln polymorphism, negative life events and X-irradiation history were associated with PTC,with odds ratios of 2.71(95% CI: 1.22-6.05),5.34(95% CI:1.40-20.38) and 0.38(95% CI: 0.12-0.72) respectively. However, XRCC1 Arg194Trp polymorphism, drinking tea, fruit and economic levels did not show statistically significant associations with PTC. Conclusion The Gln/ Gln genotype at XRCC1 Arg399Gln site and negative life events significantly increased while X-irradiation history decreased the risk of developing PTC.
出处 《中华流行病学杂志》 CAS CSCD 北大核心 2004年第8期702-705,共4页 Chinese Journal of Epidemiology
关键词 X线交错互补修复基因1 基因多态 乳头状甲状腺癌 遗传易感性 危险因素 Papillary thyroid carcinoma X-ray repair cross-complementing gene 1 Genetic polymorphism Genetic susceptibility Risk factors
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参考文献14

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