单核苷酸多态性位点rs6983267与溃疡性结肠炎及大肠癌的相关性

发布时间：2018-03-31 19:21

本文选题：多态性　切入点：单核苷酸　出处：《北京大学学报(医学版)》2016年06期

【摘要】：目的:探讨rs6983267多态性与散发性大肠癌发病风险的相关性,初步比较rs6983267多态性在溃疡性结肠炎患者和普通人群中的分布差异。方法:该病例对照研究共纳入186例散发性大肠癌患者、129例溃疡性结肠炎患者和189例对照者,采集外周静脉血并提取基因组DNA,采用基质辅助激光解吸电离-飞行时间质谱平台进行基因型分型,采用非条件Logistic回归方法校正年龄、性别,并比较各组间的等位基因和基因型频率分布差异。结果:大肠癌组的G等位基因频率及GG、GT基因型频率均高于对照组,差异具有统计学意义(P0.001)。溃疡性结肠炎组的G等位基因频率及GG、GT基因型频率均高于对照组,差异具有统计学意义(P=0.041,P=0.006和P0.001)。结论:rs6983267多态性与散发性大肠癌的发病风险相关,rs6983267多态性在溃疡性结肠炎患者和普通人群中的分布可能存在差异,且溃疡性结肠炎患者中的G风险等位基因频率可能高于普通人群。
[Abstract]:Objective: to investigate the association between rs6983267 polymorphism and sporadic colorectal cancer risk. The distribution of rs6983267 polymorphism in patients with ulcerative colitis was compared with that in the general population. Methods: a case-control study was conducted in 186 patients with sporadic colorectal cancer, 129 patients with ulcerative colitis and 189 controls. Peripheral venous blood was collected and genomic DNA was extracted. Genotyping was performed by matrix assisted laser desorption ionization / time of flight mass spectrometry. Age and sex were corrected by non conditional Logistic regression. Results: G allele frequency and GGG GT genotype frequency in colorectal cancer group were higher than those in control group. The frequency of G allele and GGG GT genotype in ulcerative colitis group were higher than those in control group. The differences were statistically significant (P < 0.01) and P 0.001 (P 0.001). Conclusion there may be differences in the distribution of rs6983267 polymorphism in patients with ulcerative colitis and in the general population, which is associated with the risk of sporadic colorectal cancer, and there may be a significant difference in the distribution of rs6983267 polymorphism between the patients with ulcerative colitis and the general population. The G-risk allele frequency in ulcerative colitis patients may be higher than that in the general population.
【作者单位】：北京大学第三医院消化科;北京大学第三医院普外科;
【基金】：国家高技术研究发展计划(863计划,2012AA02A204)资助~~
【分类号】：R574.62;R735.34

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