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死亡受体DR4基因多态性与溃疡性结肠炎易感性的关系 被引量:3

Association between death receptor DR4 gene polymorphism and the predisposition of ulcerative colitis
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摘要 目的探讨死亡受体(DR)4基因多态性与溃疡性结肠炎(UC)易感性及其临床病理特征的关系。方法在147例UC患者和244名健康对照者中,采用直接测序法检测DR4(rs20575)基因单核苷酸多态性。采用非条件Logistic回归分析DR4(rs20575)基因多态性与UC的关系。结果与对照组比较,UC组DR4(rs20575)突变等位基因(G)和基因型(CG+GG)的频率明显升高(5.78%vs 1.23%,P=0.001,OR=4.930,95%CI:1.192~12.651;7.48%vs2.46%,P=0.025,OR=3.208,95%CI:1.161~8.869)。根据改良的Truelove&Witts严重程度分型标准将UC患者分为轻度、中度和重度。结果显示中重度UC患者中DR4(rs20575)突变等位基因(G)和基因型(CG+GG)的频率显著高于轻度患者(10.64%vs 3.50%,P=0.020,OR=3.282,95%CI:1.208~8.916;14.89%vs 4.00%,P=0.028,OR=4.200,95%CI:1.165~15.146)。DR4(rs20575)的突变等位基因和基因型频率在广泛性结肠炎和远端结肠炎之间均无统计学差异(P〉0.05)。结论 DR4(rs20575)基因多态性与UC易感性密切相关,且可能影响UC的病情严重程度。 Objective To explore the association between death receptor (DR) 4 gene polymorphism and the predis- position of ulcerative colitis (UC). Methods DR4(rs20575) genotypes were determined by direct sequencing in a total of 147 UC patients and 244 healthy controls. Logistic regression analysis was employed to assess the relationship be- tween DR4 (rs20575)gene polymorphism and UC. Results Compared to the controls, the frequencies of variant allele (G)and genotype(CG+GG) of DR4(rs20575)were significantly increased in UC patients(5.78% vs 1.23%,P=0.001, 0R=4.930,95%CI: 1.192-12.651 ;7.48% vs 2.46%,P=0.O25,OR=3.208,95%CI: 1.161-8.869). According to the Tru- elove & Witt Activity Index, the severity of UC was further stratified into the mild, moderate and severe disease. In re- suit, variant allele (G)and genotype(CG+GG)in DR4(rs20575)were significantly higher in patients with moderate and severe UC than those with mild UC (10.64% vs 3.50%,P=O.O20,OR=3.282,95%CI: 1.208-8.916; 14.89% vs 4.00%, P=O.O28,0R=4.200,95%CI: 1.165-15.146). DR4(rs20575) mutant allele and genotype frequencies between extensive colitis and distal colitis were no statistical difference (P〉O.05). Conclusion The genetic polymorphism of DR4(rs20575) is significantly related with the susceptibility to UC, as well as severity of the disease in this cohort of Chinese pa- tients.
出处 《中国现代医生》 2015年第15期4-7,共4页 China Modern Doctor
基金 国家医学教育发展中心课题项目(2011-45-03-061) 浙江省温州市第一期科技计划项目(Y20130049)
关键词 死亡受体 基因多态性 溃疡性结肠炎 Death receptor Gene polymorphism Ulcerative colitis
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