Asthma and rhinitis have different genetic profiles for IL13, IL17A and GSTP1 polymorphisms

E.P. Resende , A. Todo-Bom , C. Loureiro , A. Mota Pinto , B. Oliveiros , L. Mesquita , H.C. Silva
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引用次数: 18

Abstract

Background

Asthma and rhinitis have a complex etiology, depending on multiple genetic and environmental risk factors. An increasing number of susceptibility genes are currently being identified, but the majority of reported associations have not been consistently replicated across populations of different genetic backgrounds.

Purpose

To evaluate whether polymorphisms of IL4R (rs1805015), IL13 (rs20541), IL17A (rs2275913) and GSTP1 (rs1695) genes are associated with rhinitis and/or asthma in adults of Portuguese ancestry.

Methods

192 unrelated healthy individuals and 232 patients, 83 with rhinitis and 149 with asthma, were studied. All polymorphisms were detected by real time polymerase chain reaction (PCR) using TaqMan assays.

Results

Comparing to controls, significant association with asthma was observed for GSTP1 rs1695 AA genotype (odds ratio (OR) – 1.96; 95% CI – 1.18 to 3.25; p = 0.010). The association sustains for allergic asthma (OR – 2.17; 95% CI – 1.23 to 3.80; p = 0.007). IL13 rs20541 GG genotype was associated with less susceptibility to asthma (OR – 0.55, 95% CI – 0.33 to 0.94, p = 0.028). Among patients, IL17A rs2275913 AA genotype was less associated with asthma than with rhinitis (OR – 0.20; 95% CI of 0.07 to 0.56; p = 0.002). A similar association was found for IL13 rs20541 GG genotype (OR – 0.48; 95% CI of 0.25 to 0.93; p = 0.031). There were no significant differences in the distribution of allelic and genotypic frequencies between patients and controls for the IL4R polymorphism’ analyzed.

Conclusion

These results support the existence of a significant association between GSTP1 rs1695 and IL13 rs20541 SNPs, with susceptibility to asthma, in the population studied. Different genotype profiles of IL17A and IL13 genes seem to influence the clinical pattern of disease expression mainly confined to the upper airways, as rhinitis, or including the lower airways, as asthma.

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哮喘和鼻炎具有不同的IL13、IL17A和GSTP1多态性的遗传谱
背景:哮喘和鼻炎具有复杂的病因,取决于多种遗传和环境危险因素。目前正在发现越来越多的易感基因,但大多数报告的关联并没有在不同遗传背景的人群中一致地复制。目的评估葡萄牙血统成人中IL4R (rs1805015)、IL13 (rs20541)、IL17A (rs2275913)和GSTP1 (rs1695)基因多态性是否与鼻炎和/或哮喘相关。方法对192名非亲属健康人和232例患者(鼻炎83例,哮喘149例)进行研究。所有多态性均采用TaqMan实时聚合酶链反应(PCR)检测。结果与对照组相比,GSTP1 rs1695 AA基因型与哮喘有显著相关性(优势比(OR) - 1.96;95% CI - 1.18 - 3.25;p = 0.010)。与过敏性哮喘(OR - 2.17;95% CI - 1.23 - 3.80;p = 0.007)。IL13 rs20541 GG基因型与哮喘易感性较低相关(OR - 0.55, 95% CI - 0.33 ~ 0.94, p = 0.028)。在患者中,IL17A rs2275913 AA基因型与哮喘的相关性低于与鼻炎的相关性(OR - 0.20;95% CI为0.07 ~ 0.56;p = 0.002)。IL13 rs20541 GG基因型也存在类似的相关性(OR - 0.48;95% CI为0.25 ~ 0.93;p = 0.031)。在分析IL4R多态性时,患者和对照组之间的等位基因分布和基因型频率无显著差异。结论在研究人群中,GSTP1 rs1695和IL13 rs20541 snp与哮喘易感性存在显著关联。IL17A和IL13基因的不同基因型谱似乎影响主要局限于上呼吸道(如鼻炎)或包括下呼吸道(如哮喘)的疾病表达的临床模式。
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