APC基因3′-非编码区rs1804197多态性与结直肠癌易感性的关系

Relationship between APC gene 3′-untranslated region rs1804197 polymorphism and colorectal cancer susceptibility

目的探讨结肠腺瘤性息肉病（APC）基因3′-非编码区rs1804197多态性与结直肠癌易感性的关系。方法收集573例结直肠癌病例及588例对照外周静脉血标本，提取外周血DNA，使用实时荧光定量PCR进行基因分型，通过病例对照研究方法分析rs1804197多态性位点不同基因型与结直肠癌易感性的关系。结果结直肠癌病例组中rs1804197位点CC型387例（67.5%），AC型153例（26.7%），AA型33例（5.8%）；对照组中CC型427例（72.6%），AC型144例（24.5%），AA型17例（2.9%）；病例组与对照组中AA基因型比例差异有统计学意义（OR=2.14，95%CI为1.17～3.91，P=0.011），A等位基因频率差异有统计学意义（P=0.011）。进一步亚组分析显示，男性人群和不饮酒的人群中，病例组和对照组之间rs18041797位点基因型的频率分布差异具有统计学意义（P男性=0.048，P不饮酒=0.020）；在男性人群中，携带A等位基因的个体罹患结直肠癌的风险增加了0.41倍（OR=1.41，95%CI为1.01～1.98）；在不饮酒的人群中，携带A等位基因的个体罹患结直肠癌的风险增加了0.22倍，但该结果并无统计学意义（OR=1.22，95%CI为0.91～1.64）。结论APC基因3′-非编码区的rs1804197多态性与结直肠癌易感性相关，AA基因型可能增加部分人群中结直肠癌的易感性。

ObjectiveTo explore the relationship between the rs18004197 polymorphism in the 3′-untranslated region of adenomatous polyposis coli （APC） gene and colorectal cancer susceptibility. MethodsFirstly, we collected the peripheral venous blood of 573 colorectal cancer cases and 588 controls, and then extracted DNA from blood samples, genotyped rs1804197 polymorphism using realtime PCR and assessed its association with the susceptibility of colorectal cancer. ResultsThere were 387 CC （67.5%）, 153 AC （26.7%） and 33 AA （5.8%） genotypes in the colorectal cancer cases. In the control group, there were 427 CC （72.6%）, 144 AC （24.5%） and 17 AA （2.9%） genotypes. The AA genotype odds ratio （OR=2.14, 95%CI： 1.173.91, P=0.011） and the A allele frequency （P=0.011） were significant difference in case and control groups. Further subgroup analysis showed that the differences of the frequency distribution in the male （P=0.048） and nondrinking （P=0.020） groups were statistically significant. In the male group, the risk of colorectal cancer was increased by 0.41 （OR=1.41, 95%CI： 1.011.98） for individuals bearing the A allele. In the nondrinking group, the risk of colorectal cancer was increased by 0.22 （OR=1.22, 95%CI： 0.911.64） for individuals bearing the A allele, but the result was not statistically significant. ConclusionThe rs18004197 polymorphism in the 3′-untranslated region of APC gene is related to the susceptibility of colorectal cancer. The AA genotype may increase the susceptibility of colorectal cancer.