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陕西人群环氧化酶-2（COX-2）启动子区基因多态性及与结直肠癌易感性的关联研究
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陕西人群环氧化酶-2（COX-2）启动子区基因多态性及与结直肠癌易感性的关联研究
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Journal Article
陕西人群环氧化酶-2（COX-2）启动子区基因多态性及与结直肠癌易感性的关联研究
2014
Overview
目的 探讨陕西人群环氧化酶-2（COX-2）基因启动子区的rs20417 G/C及rs2745557 G/A 2个位点的基因多态性并分析其与结直肠癌（CRC）发病风险及病理参数的相关性.方法 采用病例-对照研究,利用聚合酶链式反应和限制性片段长度多态性（PCR-RFLP）技术,对198例CRC患者和200例健康人（入组者均长期居住在陕西省西安市及周边县、市）的COX-2基因的2个位点的多态性进行检测,并运用SPSS 19.0软件统计分析各位点的基因型分布和等位基因频率.分析其与CRC发病风险及病理参数的相关性.结果 在陕西人群中,COX-2 rs20417 G/C位点多态性的GC或CC基因型频率与对照组的差异无统计学意义,而GC＋ CC基因型频率在病例组的频率显著高于对照组（OR=1.61;95％ CI：1.02～2.56）.病例组含有C等位基因的GC或CC基因型的淋巴结转移以及肿瘤分期与GG基因型比较,差异有统计学意义（P＜0.01及P＜0.01）;两个等位基因频率分布均与发病部位无显著相关性.而COX-2rs2745557 G/A位点多态性结果显示：GA基因型在病例组的频率较对照组显著增高（OR=1.98,95％ CI：1.15～3.40）,AA基因型在病例组中的频率亦较对照组高（OR-1.87,95％ CI：1.09～3.19）,A等位基因携带者在病例组中的频率高于对照组（OR=1.92,95％CI：1.18～3.13）.含有A等位基因的GA或AA基因型相对于GG基因型,淋巴结转移以及肿瘤分期差异均有统计学意义（P均＜0.01）;两个等位基因频率分布均与发病部位无显著相关性.结论 相同环境条件下,陕西人群中携带COX-2 rs20417 C等位基因型的个体和rs2745557 A等位基因型的个体患CRC的风险增加,rs20417 C等位基因频率、rs2745557的A等位基因频率与CRC发生发展及淋巴结转移密切相关.两个基因位点的各等位基因频率与CRC的发生部位均无明显相关性.
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