维生素D受体基因BsmⅠ、ApaⅠ、TaqⅠ单核苷酸多态性与溃疡性结肠炎的相关性分析  

Associations of ulcerative colitis with Bsm Ⅰ,Apa Ⅰ and Taq Ⅰ polymorphisms in vitamin D receptor gene

作　　者：郑波[1] 闵小彦[1] 王建嶂[1] 裴继华[1] 徐昌隆[1] 蒋益[1] 

机构地区：[1]温州医科大学附属第二医院消化内科,浙江温州325000

出　　处：《中华全科医学》2016年第3期368-370,共3页Chinese Journal of General Practice

基　　金：浙江省温州市科技局资助项目(Y20120028)

摘　　要：目的维生素D受体（VDR）不仅能调节机体免疫应答、细胞凋亡等生物学功能,还与多种自身免疫性疾病、感染性疾病及肿瘤密切相关。研究证实VDR基因多态性是调控VDR蛋白表达及其生物学功能的重要遗传因素之一。总结国内外有关VDR基因多态性与溃疡性结肠炎（UC）相关性的研究报道,其结果并不一致。因此,本研究将在汉族人群中探讨VDR基因上BsmⅠ、ApaⅠ、TaqⅠ3个单核苷酸多态性（SNP）与UC的相关性。方法收集198例UC患者和312例健康对照者,采用直接测序法检测BsmⅠ、ApaⅠ和TaqⅠ3个SNP。采用Haploview 4.2进行单倍型分析。结果在UC组和对照组之间比较,VDR基因上BsmⅠ、ApaⅠ、TaqⅠ3个SNP的突变等位基因和基因型频率差异均无统计学意义（P均〉0.05）。单倍型分析显示上述3个SNP紧密连锁,并且UC组中AAC单倍型的频率较对照组显著降低[3.53%（14/396）比7.21%（45/624）,P=0.014,OR=0.472,95%CI：0.255-0.871]。结论 VDR（BsmⅠ、ApaⅠ、TaqⅠ）构成的AAC单倍型携带者罹患UC的风险性可能降低。Objective To investigate the associations between VDR gene（ Bsm-Ⅰ,Apa-Ⅰ and Taq-Ⅰ） polymorphisms and ulcerative colitis（ UC） in a Chinese Population. Methods Total 198 cases of UC and 312 normal subjects were recruited. VDR Bsm Ⅰ,Apa Ⅰ and Taq Ⅰ polymorphisms was genotyped with direct sequencing. Haplotype analysis was conducted using Haploview 4. 2. Results The allelic and genotypic frequencies of VDR（ Bsm I,Apa I,Taq I） did not statistically differ between UC patients and the controls（ all P〉0. 05）. The haplotype analysis showed that the Bsm I,Apa I and Taq I polymorphic loci were in a strong linkage disequilibrium. In addition,the frequency of AAC haplotype in UC patients was significantly lower than in the controls[3. 53%（ 14 /396） vs 7. 21%（ 45 /624）,P = 0. 014,OR = 0. 472,95% CI： 0. 255- 0. 871]. Conclusion Individuals with AAC haplotype formed by VDR（ Bsm Ⅰ,Apa Ⅰ,Taq Ⅰ） might have a lower risk of UC.

关 键 词：溃疡性结肠炎 维生素D受体 基因多态性 

分 类 号：R574.62[医药卫生—消化系统]