维生素D受体基因多态性及单倍型与克罗恩病的相关性
发布时间：2018-08-06 12:51
【摘要】：目的:探讨维生素D受体(VDR)基因多态性与克罗恩病(CD)的关系。方法:在326例CD患者和464名对照者中,采用SNaPshot技术检测VDR(FokI,BsmI,ApaI、TaqI)4种单核苷酸多态性。结果:与对照组相比,CD组中BsmI的突变等位基因(A)和基因型(GA+AA)频率显著降低(均P=0.001);TaqI的突变等位基因(C)和基因型(TC+CC)频率亦显著降低(均P0.05)。分层分析显示与对照组相比,狭窄型CD患者中BsmI和TaqI的突变等位基因和基因型频率亦显著降低(均P0.008 3)。随后的单倍型分析显示BsmI、ApaI和TaqI彼此紧密连锁,CD组中AAC单倍型频率显著低于对照组(P0.05)。结论:VDR(BsmI、TaqI)基因突变可能降低CD,尤其是狭窄型CD的发病风险。AAC单倍型携带者罹患CD的风险性可能降低。
[Abstract]:Objective: to investigate the relationship between vitamin D receptor (VDR) gene polymorphism and (CD) in Crohn's disease. Methods: four single nucleotide polymorphisms (SNP) of VDR (Foki BsmI Apai TaqI) were detected by SNaPshot in 326 patients with CD and 464 controls. Results: compared with the control group, the frequency of mutated allele (A) and genotype (GA AA) of BsmI decreased significantly (P0. 001). The frequency of (C) and (TC CC) of the mutation allele of TaqI was also significantly lower than that of control group (P0.05). Stratified analysis showed that the mutation alleles and genotype frequencies of BsmI and TaqI in patients with stenosis CD were significantly lower than those in controls (P 0.008 3). The haplotype analysis showed that the frequency of AAC haplotype in CD group was significantly lower than that in control group (P0.05). Conclusion the mutation of the BsmI TaqI gene may reduce the risk of CD, especially the risk of stenosis CD. The risk of CD in AAC haplotype carriers may be lower than that of AAC haplotype carriers.
【作者单位】： 温州医科大学附属第二医院消化内科;温州医科大学附属第一医院消化内科;温州市中心医院消化内科;温州市人民医院消化内科;
【基金】：浙江省自然科学基金(编号:LY14H030012,LY15H030018) 浙江省卫生厅项目(编号:2012KYA132) 温州市科技局项目(编号:Y20140078)
【分类号】：R574.62
[Abstract]:Objective: to investigate the relationship between vitamin D receptor (VDR) gene polymorphism and (CD) in Crohn's disease. Methods: four single nucleotide polymorphisms (SNP) of VDR (Foki BsmI Apai TaqI) were detected by SNaPshot in 326 patients with CD and 464 controls. Results: compared with the control group, the frequency of mutated allele (A) and genotype (GA AA) of BsmI decreased significantly (P0. 001). The frequency of (C) and (TC CC) of the mutation allele of TaqI was also significantly lower than that of control group (P0.05). Stratified analysis showed that the mutation alleles and genotype frequencies of BsmI and TaqI in patients with stenosis CD were significantly lower than those in controls (P 0.008 3). The haplotype analysis showed that the frequency of AAC haplotype in CD group was significantly lower than that in control group (P0.05). Conclusion the mutation of the BsmI TaqI gene may reduce the risk of CD, especially the risk of stenosis CD. The risk of CD in AAC haplotype carriers may be lower than that of AAC haplotype carriers.
【作者单位】： 温州医科大学附属第二医院消化内科;温州医科大学附属第一医院消化内科;温州市中心医院消化内科;温州市人民医院消化内科;
【基金】：浙江省自然科学基金(编号:LY14H030012,LY15H030018) 浙江省卫生厅项目(编号:2012KYA132) 温州市科技局项目(编号:Y20140078)
【分类号】：R574.62
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