Single Nucleotide and Copy-Number Variants in IL4 and IL13 Are Not Associated with Asthma Susceptibility or Inflammatory Markers: A Case-Control Study in a Mexican-Mestizo Population
Single Nucleotide and Copy-Number Variants in IL4 and IL13 Are Not Associated with Asthma Susceptibility or Inflammatory Markers: A Case-Control Study in a Mexican-Mestizo Population
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DOI：
10.3390/diagnostics10050273
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发表时间：
2020-05-01
期刊：
影响因子：
3.6
通讯作者：
Falfan-Valencia, Ramces
中科院分区：
文献类型：
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作者：
Ambrocio-Ortiz, Enrique;Galicia-Negrete, Gustavo;Falfan-Valencia, Ramces
背景：哮喘是一种复杂的慢性气道炎症性疾病。哮喘的病因尚不清楚;然而，遗传和环境因素可能会影响疾病的易感性。我们设计了一个病例对照研究，旨在评估的作用，单核苷酸多态性（SNP），和拷贝数变异（CNV）的IL 4和IL 13基因在哮喘易感性和参与血浆细胞因子水平取决于基因型方法：我们包括486名受试者，分为哮喘患者（AP，n = 141）和临床健康受试者（CHS，n = 345）。我们对三个SNP进行了基因分型，两个在IL 4基因中，两个在IL 13基因中;还有两个在IL 4中的CNV。定量IL-4、IL-13和IgE血浆水平。结果：AP组的生物质燃烧烟雾暴露高于CHS组（47.5% vs. 20.9%; p < 0.01，OR = 3.4）。在遗传关联分析中没有发现统计学差异。在两个CNV中，我们只发现了共同的等位基因。IL-4，IL-13和IgE的措施分层基因型的分析，没有显着的关联或相关性被发现。结论：在墨西哥混血人口，SNPs既不CNVs在IL-4也不IL-13与哮喘易感性或参与血清细胞因子水平。生物质燃烧烟雾是哮喘易感性的危险因素。
Background: Asthma is a complex and chronic inflammatory airway disease. Asthma's etiology is unknown; however, genetic and environmental factors could affect disease susceptibility. We designed a case-control study aimed to evaluate the role of single-nucleotide polymorphisms (SNP), and copy-number variants (CNV) in the IL4 and IL13 genes in asthma susceptibility and their participation in plasma cytokine levels depending on genotypes Methods: We include 486 subjects, divided into asthma patients (AP, n = 141) and clinically healthy subjects (CHS, n = 345). We genotyped three SNP, two in the IL4 and two in the IL13 gene; also, two CNVs in IL4. The IL-4, IL-13 and IgE plasma levels were quantified. Results: Biomass-burning smoke exposure was higher in the AP group compared to CHS (47.5% vs. 20.9%; p < 0.01, OR = 3.4). No statistical differences were found in the genetic association analysis. In both CNV, we only found the common allele. For the analysis of IL-4, IL-13, and IgE measures stratified by genotypes, no significant association or correlation was found. Conclusion: In the Mexican-mestizo population, SNPs neither CNVs in IL4 nor IL13 are associated with asthma susceptibility or involved serum cytokine levels. Biomass-burning smoke is a risk factor in asthma susceptibility.