【摘要】 目的检测结直肠癌患者外周血中卷曲螺旋结构域蛋白12(CCDC12)基因R18Y位点多态性的情况及血清CCDC12的水平。方法选取就诊并确诊为结直肠癌的患者200例为病例组,同期健康体检者200例为对照组。留取外周血,应用PCR扩增联合DNA直接测序法检测CCDC12基因R18Y位点在病例组与对照组中的分布情况,同时检测外周血血清中CCDC12的水平。将病例组和对照组按基因型再次分组,观察各基因型血清CCDC12浓度的变化情况。应用Logistic回归分析探讨CCDC12基因R18Y位点多态性与结直肠癌的相关性。结果 CCDC12基因R18Y位点存在T和C两种等位基因,共发现3种基因型:CC(野生型纯合子)、CT(杂合突变型)、TT(纯合突变型)。病例组TT、CT基因型频率及T等位基因均显著高于对照组(P<0.05)。病例组血清中CCDC12的浓度水平明显高于对照组(P<0.05)。按基因型分组后,病例组和对照组中CC、CT、TT基因型者血清CCDC12的浓度逐渐升高(P<0.05)。Logistic分析显示,TT基因型是结直肠癌的独立危险因素(OR值为9.604,95%CI为3.427～46.128,P=0.005;OR值为1.973,95%CI为1.329～3.472,P=0.034)。结论 CCDC12基因R18Y位点多态性与结直肠癌有关。更多还原

【Abstract】 Objective To investigate the relationship between R18Y site polymorphism of coiled-coil domain containing 12(CCDC12) gene and levels of CCDC12 in peripheral blood in patients with colorectal cancers.Methods A total of 200 patients with colorectal cancer who were diagnosed and treated in our hospital from January 2014 to May 2016 were enrolled as case group,at the same time, the other 200 healthy subjects who underwent physical examination in our hospital were enrolled as control group.The levels of of CCDC12 in peripheral blood were detected by ELISA assay.PCR amplification combined with DNA direct sequencing were used to detect R18Y site polymorphism of CCDC12 gene in both groups.Moreover the levels of CCDC12 in peripheral blood were also compared according to classification of different genotypes.Logistic regression analysis was used to evaluate the correlation between R18Y site polymorphism of CCDC12 gene and colorectal cancer.Results The two kinds of allelic genes T and C were found in R18Y site of CCDC12 gene,and three kinds of genotypes TT,CT,CC were observed totally.The gene frequency of TT,CT genotypes and allelic gene T in case group were significantly higher than those in control group(P<0.05).The levels of of CCDC12 in case group were significantly higher than those in control group(P<0.05).Moreover the levels of CCDC12 in TT genotype group were higher than that in CT or CC genotype group,and the levels of CCDC12 in CT genotype group were significantly higher than those in CC genotype group(P<0.05.Logistic regression analysis showed that TT genotype was independent risk factor of colorectal cancer(OR=9.604,95%CI:3.427～46.128,P<0.01;OR=1.973,95%CI:1.329-3.472,P<0.05).Conclusion Polymorphism of CCDC12 gene R18Y site is related with colorectal cancer.更多还原