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鉴定IL13基因C1923T作为毛里求斯儿童哮喘的单核苷酸多态性

Identification of IL13 C1923T as a Single Nucleotide Polymorphism for Asthma in Children from Mauritius.

作者信息

Ramphul Kamleshun, Hua Li, Bao Yi Xiao, Li Jing Yang, Liu Quan Hua, Ji Ruo Xu, Fang Ding Zhu

机构信息

Department of Pediatrics, Xin Hua Hospital , Shanghai, China .

出版信息

Pediatr Allergy Immunol Pulmonol. 2015 Jun 1;28(2):92-95. doi: 10.1089/ped.2014.0464.

Abstract

Research increasingly suggests that asthma is a familial and hereditary disorder and that genetic and environmental factors play a key role in its pathogenesis. The aim of this study was to investigate the associations between 10 single nucleotide polymorphism (SNP) loci in the development of asthma in children from the Mauritian population. The study population consisted of 193 children with asthma and 189 healthy controls from the Mauritian population. Asthma was diagnosed in accordance with the American Thoracic Society criteria. TaqMan real-time quantitative polymerase chain reaction was used to detect the genotypes of the SNP loci. No statistically significant differences (>0.05) were found between the experimental and control group in genotype distribution among nine of the loci (MS4A2 E237G, MS4A2 C-109T, ADRB2 R16G, IL4RA Q551R, IL4RA I75V, IL4 C-590T, IL13 A2044G, IL13 C-1112T, and CHI3L1 C-131G). However, the frequency of IL13 C1923T TT in the asthma group was significantly higher than in the control group (odds ratio=2.119, =0.033) suggesting that carriers of IL13 C1923T TT in the Mauritian population may have a more significant risk of developing asthma. The nine loci have little contribution to the development of childhood asthma in the Mauritian population. IL13 C1923T TT has been detected to be the susceptible genotype and may have a significant effect on the pathogenesis of childhood asthma in the Mauritian population.

摘要

越来越多的研究表明,哮喘是一种家族性和遗传性疾病,遗传和环境因素在其发病机制中起关键作用。本研究的目的是调查毛里求斯人群中10个单核苷酸多态性(SNP)位点与儿童哮喘发病之间的关联。研究人群包括193名来自毛里求斯人群的哮喘儿童和189名健康对照。根据美国胸科学会标准诊断哮喘。采用TaqMan实时定量聚合酶链反应检测SNP位点的基因型。在9个位点(MS4A2 E237G、MS4A2 C-109T、ADRB2 R16G、IL4RA Q551R、IL4RA I75V、IL4 C-590T、IL13 A2044G、IL13 C-1112T和CHI3L1 C-131G)的基因型分布中,实验组和对照组之间未发现统计学上的显著差异(>0.05)。然而,哮喘组中IL13 C1923T TT的频率显著高于对照组(优势比=2.119,=0.033),这表明毛里求斯人群中IL13 C1923T TT的携带者患哮喘的风险可能更高。这9个位点对毛里求斯人群儿童哮喘的发病贡献不大。已检测到IL13 C1923T TT为易感基因型,可能对毛里求斯人群儿童哮喘的发病机制有显著影响。

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