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塞尔维亚支气管哮喘患者维生素D受体基因多态性:一项病例对照研究。

Vitamin D Receptor Gene Polymorphisms in Serbian Patients With Bronchial Asthma: A Case-Control Study.

作者信息

Despotovic Milena, Jevtovic Stoimenov Tatjana, Stankovic Ivana, Basic Jelena, Pavlovic Dusica

机构信息

Faculty of Medicine, Department of Biochemistry, University of Nis, Boulevard dr Zoran Djindjic 81, Nis 18000, Serbia.

Clinic for Pulmonary Diseases and Tuberculosis, Clinical Centre Nis, University of Nis, Nis, Serbia.

出版信息

J Cell Biochem. 2017 Nov;118(11):3986-3992. doi: 10.1002/jcb.26054. Epub 2017 May 23.

Abstract

Vitamin D and single nucleotide polymorphisms (SNPs) in vitamin D receptor (VDR) gene are potentially involved in the pathogenesis of bronchial asthma (BA); however, precise mechanisms by which vitamin D reduces the inflammation and the role of VDR SNPs in BA are not completely understood. The aim of this study was to examine the possible associations of FokI, BsmI, ApaI, and TaqI SNPs with BA. A total of 168 subjects were screened for VDR SNPs using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) method. The obtained results showed statistically significant differences in the distribution of FokI genotypes (df = 2; P = 0.008) and alleles (P = 0.002; OR = 0.446; 95%CI = 0.264-0.752) between patients and controls. Distributions of BsmI, ApaI, and TaqI genotypes and alleles did not show statistical differences. BsmI, ApaI, and TaqI SNPs are in linkage disequilibrium (LD) in the whole studied group, as well as in BA patients and controls. The strongest LD was observed between BsmI and TaqI (r  = 0.69 for all subjects in the study; r  = 0.75 in BA; r  = 0.64 in controls), while lower values of LD were observed for BsmI and ApaI, and ApaI and TaqI SNPs. This is the first study that examined the association of VDR SNPs (FokI, BsmI, ApaI, and TaqI) in Serbian patients with BA indicating protective effect of FF genotype and F allele of FokI SNP on BA development. J. Cell. Biochem. 118: 3986-3992, 2017. © 2017 Wiley Periodicals, Inc.

摘要

维生素D及维生素D受体(VDR)基因中的单核苷酸多态性(SNP)可能参与支气管哮喘(BA)的发病机制;然而,维生素D减轻炎症的确切机制以及VDR基因多态性在BA中的作用尚未完全明确。本研究旨在探讨FokI、BsmI、ApaI和TaqI基因多态性与BA之间可能存在的关联。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法对168名受试者进行VDR基因多态性筛查。结果显示,患者与对照组之间FokI基因型分布(自由度=2;P=0.008)和等位基因分布(P=0.002;比值比=0.446;95%可信区间=0.264-0.752)存在统计学显著差异。BsmI、ApaI和TaqI基因型及等位基因分布无统计学差异。在整个研究组以及BA患者和对照组中,BsmI、ApaI和TaqI基因多态性处于连锁不平衡(LD)状态。BsmI和TaqI之间观察到最强的LD(研究中所有受试者r=0.69;BA中r=0.75;对照组中r=0.64),而BsmI与ApaI以及ApaI与TaqI基因多态性的LD值较低。这是第一项研究塞尔维亚BA患者中VDR基因多态性(FokI、BsmI、ApaI和TaqI)关联的研究,表明FokI基因多态性的FF基因型和F等位基因对BA发展具有保护作用。《细胞生物化学杂志》118:3986-3992,2017年。©2017威利期刊公司

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