文章摘要
陈小军,钱年凤,胡志斌,沈洪兵,韩素萍.IL-12A和IL-12B基因多态性与江苏人群宫颈癌遗传易感性相关[J].南京医科大学学报,2009,29(8):1146~1152
IL-12A和IL-12B基因多态性与江苏人群宫颈癌遗传易感性相关
Associations between potentially functional polymorphisms in IL-12A and IL-12B and risk of cervical cancer in Jiangsu women
投稿时间:2009-04-01  
DOI:10.7655
中文关键词: IL-12  单核苷酸多态性  宫颈癌  分子流行病学
英文关键词: IL-12  polymorphism  cervical cancer  molecular epidemiology
基金项目:
作者单位
陈小军 南京医科大学第一附属医院妇产科,江苏 南京 210029 
钱年凤 南京医科大学第一附属医院妇产科,江苏 南京 210029 
胡志斌 南京医科大学肿瘤中心流行病与卫生统计教研室,江苏 南京 210029 
沈洪兵 南京医科大学肿瘤中心流行病与卫生统计教研室,江苏 南京 210029 
韩素萍 南京医科大学第一附属医院妇产科,江苏 南京 210029 
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中文摘要:
      目的:探讨IL-12A和IL-12B基因多态性与江苏人群宫颈癌的遗传易感性的关系?方法:采用病例对照研究,对经组织学确诊的宫颈癌新发病例404例按年龄和城乡频数匹配正常对照404例,以聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)方法对IL-12A基因的rs568408(3’UTR G>A)?rs2243115(5’UTR T>G)和IL12B基因的rs3212227(3’UTR A>C)进行多态性检测,比较不同基因型与宫颈癌发病风险的关系?结果:在调整年龄?城乡等因素后,携带IL-12A rs568408 GA/AA 和 IL-12B rs3212227 AC/CC突变基因型的个体发生宫颈癌的风险较携带IL-12A rs568408 GG和IL-12B rs3212227 AA野生基因型的个体分别增加了43%(调整OR=1.43,95% CI=1.06~1.93)和30%(调整OR=1.30,95% CI=0.97~1.75),并且该两位点之间存在基因-基因相乘交互作用(P = 0.048),同时携带两个突变基因型的个体发生宫颈癌的风险增加了82%(调整OR=1.82,95% CI=1.28~2.57)?分层分析表明,两基因位点的联合作用在早期宫颈癌患者和多产的患者中更为显著?同时携带两个突变基因型并且活产数大于2的个体发生宫颈癌的危险增加6倍(调整OR=6.00,95% CI=2.86~12.56),并且存在显著的基因环境相乘交互作用(P=0.046)?结论:IL-12A rs568408和IL-12B rs3212227基因多态性位点可能单独或共同影响江苏人群宫颈癌发病风险,并且与个体的活产数有关?
英文摘要:
      Objective:To investigate the association between the potentially functional polymorphisms in IL-12A and IL-12B and risk of cervical cancer. Methods:The case-control study was conducted in Jiangsu female population, including 404 cervical cancer cases and 404 cancer-free controls frequency-matched by age and residential areas. The genotype of the IL-12A rs568408, rs2243115 and IL-12B rs3212227 polymorphisms were determined by polymerase chain reaction restriction and fragment length polymorphism (PCR-RFLP) assays. Results:The IL-12A rs568408 GA/AA and IL-12B rs3212227 AC/CC variant genotypes were associated with a significantly increased risk of cervical cancer [adjusted odds ratio (OR)=1.43,95% confidence interval(CI)=1.06~1.93 and adjusted OR=1.30,95% CI=0.97~1.75, respectively], compared with their corresponding wild-type homozygotes. Moreover, a significant gene-gene interaction of these two loci were evident in the risk of cervical cancer (P for multiplicative interaction=0.048); subjects carrying variant genotypes of both loci had a 1.82-fold (95% CI=1.28~2.57) increased risk of cervical cancer. In the stratified analyses,the combined genetic effect was more pronounced in patients with early-stage tumors and those with more parities. Subjects carrying rs568408 AG/AA and rs3212227 AC/CC genotypes and having more than 2 parities showed a 6.00-fold (95% CI=2.86~12.56) elevated cervical cancer risk (P for multiplicative interaction=0.046). Conclusion:These findings indicate that IL-12A rs568408 and IL-12B rs3212227 may individually and jointly contribute to the risk of cervical cancer, and may modify cervical cancer risk associated with parity.
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