【摘要】：目的:探討維生素D受體(VDR)基因多態(tài)性與克羅恩病(CD)的關(guān)系。方法:在326例CD患者和464名對(duì)照者中,采用SNaPshot技術(shù)檢測(cè)VDR(FokI,BsmI,ApaI、TaqI)4種單核苷酸多態(tài)性。結(jié)果:與對(duì)照組相比,CD組中BsmI的突變等位基因(A)和基因型(GA+AA)頻率顯著降低(均P=0.001);TaqI的突變等位基因(C)和基因型(TC+CC)頻率亦顯著降低(均P0.05)。分層分析顯示與對(duì)照組相比,狹窄型CD患者中BsmI和TaqI的突變等位基因和基因型頻率亦顯著降低(均P0.008 3)。隨后的單倍型分析顯示BsmI、ApaI和TaqI彼此緊密連鎖,CD組中AAC單倍型頻率顯著低于對(duì)照組(P0.05)。結(jié)論:VDR(BsmI、TaqI)基因突變可能降低CD,尤其是狹窄型CD的發(fā)病風(fēng)險(xiǎn)。AAC單倍型攜帶者罹患CD的風(fēng)險(xiǎn)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.
【作者單位】： 溫州醫(yī)科大學(xué)附屬第二醫(yī)院消化內(nèi)科;溫州醫(yī)科大學(xué)附屬第一醫(yī)院消化內(nèi)科;溫州市中心醫(yī)院消化內(nèi)科;溫州市人民醫(yī)院消化內(nèi)科;
【基金】：浙江省自然科學(xué)基金(編號(hào):LY14H030012,LY15H030018) 浙江省衛(wèi)生廳項(xiàng)目(編號(hào):2012KYA132) 溫州市科技局項(xiàng)目(編號(hào):Y20140078)
【分類號(hào)】：R574.62

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