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Association of vitamin D receptor gene polymorphisms with susceptibility to asthma in Tunisian children: A case control study

机译:突尼斯儿童维生素D受体基因多态性与哮喘易感性的关系:病例对照研究

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Background: Vitamin D and its nuclear receptor (VDR) are linked to asthma in a genetic and immunologic basis. Polymorphisms in the VDR gene may alter the actions of vitamin D and then influence the development and the severity of asthma. Aims: We aimed at elucidating the genetic association of VDR gene polymorphisms with susceptibility to asthma in Tunisian children and with serum vitamin D levels. Methods: The study included 155 patients recruited from Abderrahmen MAMI hospital in Tunisia and two hundred twenty five healthy individuals matched with patients in age and sex for comparison. VDR genotypes were determined by PCR-RFLP method using endonuclease FokI, BsmI, TaqI and ApaI and vitamin D was assessed with a radioimmunoassay kit. Results: The distribution of genotype frequencies differed significantly between asthmatics and controls (FokI: P= 0.04; BsmI: P= 0.006; TaqI: P= 0.006). Haplotype analyses revealed a significant association between bAt and bat haplotypes and asthma (P= 0.00076, P= 0.016). When patients were stratified according to atopic status and stage of severity, no significant association was detected with VDR variants. No association was found between VDR SNPs and serum 25-hydroxyvitamin D levels. Conclusion: Our study shows a relation between VDR gene polymorphisms and susceptibility to asthma in children.
机译:背景:维生素D及其核受体(VDR)在遗传和免疫学基础上与哮喘有关。 VDR基因中的多态性可能会改变维生素D的作用,进而影响哮​​喘的发展和严重程度。目的:我们旨在阐明VDR基因多态性与突尼斯儿童哮喘易感性和血清维生素D水平的遗传相关性。方法:该研究纳入了来自突尼斯阿卜杜拉门·马米医院的155名患者,以及与年龄和性别相匹配的255名健康个体进行比较。使用核酸内切酶FokI,BsmI,TaqI和ApaI通过PCR-RFLP方法确定VDR基因型,并使用放射免疫分析试剂盒评估维生素D。结果:哮喘患者与对照组之间的基因型频率分布存在显着差异(FokI:P = 0.04; BsmI:P = 0.006; TaqI:P = 0.006)。单倍型分析揭示了bAt和bat单倍型与哮喘之间的显着相关性(P = 0.00076,P = 0.016)。根据特应性状态和严重程度对患者进行分层时,未发现与VDR变异有显着相关性。在VDR SNP与血清25-羟基维生素D水平之间未发现关联。结论:我们的研究显示了VDR基因多态性与儿童哮喘易感性之间的关系。

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