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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
引用本文:刘艳霞,杨雪松,付卫,姚宏伟. 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[J]. 北京大学学报(医学版), 2016, 48(6): 994-999. DOI: 10.3969/j.issn.1671-167X.2016.06.013
作者姓名:刘艳霞  杨雪松  付卫  姚宏伟
作者单位:(北京大学第三医院1.消化科, 2.普外科, 北京100191)
基金项目:国家高技术研究发展计划(863计划;2012AA02A204)资助 Supported by the National High Technology Research and Development Program of China(863 Program
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(P<0.001)。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P<0.001)。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。

关 键 词:多态性  单核苷酸  结肠炎  溃疡性  结直肠肿瘤  

Association of single nucleotide polymorphism rs6983267 with ulcerative colitis and colorectal cancer
LIU Yan-xia,YANG Xue-song,FU Wei,YAO Hong-wei. Association of single nucleotide polymorphism rs6983267 with ulcerative colitis and colorectal cancer[J]. Journal of Peking University. Health sciences, 2016, 48(6): 994-999. DOI: 10.3969/j.issn.1671-167X.2016.06.013
Authors:LIU Yan-xia  YANG Xue-song  FU Wei  YAO Hong-wei
Affiliation:(1. Department of Gastroenterology, 2.Department of General Surgery, Peking University Third Hospital, Beijing 100191, China)
Abstract:Objective: To investigate the association of rs6983267 polymorphism with risk of sporadic colorectal cancer; to compare the distribution of rs6983267 polymorphism between ulcerative colitis and general population. Methods: 186 patients with sporadic colorectal cancer, 129 patients with ulcerative colitis and 189 healthy donors were recruited in the case-control study. Peripheral venous blood was obtained, and genomic DNA was extracted. All samples were genotyped using matrix-assisted laser desorption ionization time-of-flight mass spectrometry techniques. Allelic and genotypic frequencies were compared and adjusted for age and gender using unconditional Logistic regression. Results: The allelic frequency of G and the genotypic frequencies of GG and GT were predominant in colorectal cancer group compared with control group, which were statistically significant after adjustment for age and gender (P<0.001). The allelic frequency of G and the genotypic frequencies of GG and GT were predominant in ulcerative colitis group compared with control group, which were statistically significant as well (P=0.041, P=0.006 and P<0.001). Conclusion: rs6983267 polymorphism was associated with risk of sporadic colorectal cancer. The distribution of rs6983267 may be different between ulcerative colitis and general population,and the frequency of risk allele G may be higher in ulcerative colitis patients compared with general population.
Keywords:Polymorphism,single nucleotide  Colitis,ulcerative  Colorectal neoplasms
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