在以人群为基础的汉族队列中,RAGE基因多变异与哮喘和COPD风险的关联

IF 2.7 4区 医学 Q2 GENETICS & HEREDITY Genes and Environment Pub Date : 2019-09-28 DOI:10.1183/13993003.congress-2019.pa5396
H. Niu, T. Yang, W. Niu, K. Huang, R. Duan, T. Yu, Chen Wang
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引用次数: 0

摘要

背景:尽管一些研究评估了晚期糖基化终产物受体(RAGE)基因变异与哮喘和COPD的关系,但结果仍然不一致。我们的目的是在一个基于人群的汉族队列中研究RAGE基因的多个变异与哮喘和COPD风险的相关性,无论是单独还是联合。方法:采用TaqMan法对347例哮喘或COPD患者和527名年龄和性别匹配的对照组进行RAGE基因5个变异(rs1800625、rs1800624、rs2070600、rs184003和rs2071288)的基因分型。使用Haplo.stats程序分析数据,并创建列线图模型来预测哮喘和COPD的风险。结果:5个变异株的基因型分布符合Hardy-Weinberg平衡。在单基因座分析中,COPD患者和对照组的rs1800625和哮喘患者的rs1800624等位基因分布存在统计学显著差异。单倍型分析表明,单倍型T-A-G-T-G(按rs1800625、rs1800624、rs2070600、rs184003和rs2071288变体的顺序)(Padj.=0.0134)和T-A-A-G-G(P adj.=0.0040)分别降低了COPD和哮喘的风险。单倍型表型分析表明,高、低密度脂蛋白胆固醇和血尿素氮与COPD和总胆固醇与哮喘显著相关(Psim结论:我们的研究结果表明,RAGE基因是汉族人哮喘和COPD易感性的候选基因。
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Association of RAGE gene multiple variants with the risk for asthma and COPD in a population-based Han Chinese cohort
Background: Although some studies have evaluated the association of the receptor for advanced glycation end products (RAGE) genetic variation with asthma and COPD, the results are still inconsistent. We here aimed to investigate the association of multiple variants in RAGE gene with the risk for asthma and COPD, alone and in combination, in a population-based Han Chinese cohort. Methods: Five variants in RAGE gene (rs1800625, rs1800624, rs2070600, rs184003 and rs2071288) were genotyped using the TaqMan assay among 347 patients with asthma or COPD and 527 age and sex-matched controls. Data were analyzed using Haplo.stats program, and a nomogram model was created to predict asthma and COPD risk. Results: The genotypic distributions of five selected variants met the Hardy-Weinberg equilibrium. In single-locus analysis, statistically significant differences were seen in the allele distribution of rs1800625 in COPD and rs1800624 in asthma between patients and controls. Haplotype analysis indicated that haplotypes T-A-G-T-G (in order of rs1800625, rs1800624, rs2070600, rs184003 and rs2071288 variants) (Padj. = 0.0134) and T-A-A-G-G (P adj. = 0.0040) conferred a decrease risk for COPD and asthma respectively. Haplotype-phenotype analysis indicated significant association of high- and low-density lipoprotein cholesterol and blood urea nitrogen with COPD and total cholesterol with asthma (Psim Conclusions: Our findings indicate that RAGE gene is a candidate gene in susceptibility to the development of asthma and COPD in Han Chinese.
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来源期刊
Genes and Environment
Genes and Environment Biochemistry, Genetics and Molecular Biology-Genetics
CiteScore
4.00
自引率
0.00%
发文量
24
审稿时长
27 weeks
期刊介绍: Genes and Environment is an open access, peer-reviewed journal that aims to accelerate communications among global scientists working in the field of genes and environment. The journal publishes articles across a broad range of topics including environmental mutagenesis and carcinogenesis, environmental genomics and epigenetics, molecular epidemiology, genetic toxicology and regulatory sciences. Topics published in the journal include, but are not limited to, mutagenesis and anti-mutagenesis in bacteria; genotoxicity in mammalian somatic cells; genotoxicity in germ cells; replication and repair; DNA damage; metabolic activation and inactivation; water and air pollution; ROS, NO and photoactivation; pharmaceuticals and anticancer agents; radiation; endocrine disrupters; indirect mutagenesis; threshold; new techniques for environmental mutagenesis studies; DNA methylation (enzymatic); structure activity relationship; chemoprevention of cancer; regulatory science. Genetic toxicology including risk evaluation for human health, validation studies on testing methods and subjects of guidelines for regulation of chemicals are also within its scope.
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