| 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 |
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| 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 |
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| 作者姓名： | 刘艳霞 杨雪松 付卫 姚宏伟 |
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| 作者单位： | (北京大学第三医院1.消化科， 2.普外科， 北京100191) |
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| 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 |
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| 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。
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| 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 |
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| 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 |
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| Authors: | LIU Yan-xia YANG Xue-song FU Wei YAO Hong-wei |
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| Affiliation: | (1. Department of Gastroenterology, 2.Department of General Surgery, Peking University Third Hospital, Beijing 100191, China) |
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| 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. |
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| Keywords: | Polymorphism,single nucleotide Colitis,ulcerative Colorectal neoplasms |
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