Department of Medical and Surgical Sciences (DIMEC), University of Bologna, 40138 Bologna, Italy.
Laboratory of Molecular Anthropology, Centre for Genome Biology, Department of Biological, Geological and Environmental Sciences, University of Bologna, 40126 Bologna, Italy.
Genes (Basel). 2022 Jan 25;13(2):214. doi: 10.3390/genes13020214.
Asthma is a complex and heterogeneous disease, caused by the interaction between genetic and environmental factors with a predominant allergic background in children. The role of specific genes in asthmatic bronchial reactivity is still not clear, probably because of the many common pathways shared with other allergic disorders. This study is focused on 11 SNPs possibly related to asthma that were previously identified in a GWAS study. The genetic variability of these SNPs has been analysed in a population of 773 Italian healthy controls, and the presence of an association between the polymorphisms and the asthma onset was evaluated performing genotyping analysis on 108 children affected with asthma compared with the controls. Moreover, a pool of 171 patients with only allergic rhinoconjunctivitis has been included in the case-control analysis. The comparison of allele frequencies in asthmatic patients versus healthy controls identified two SNPs-rs1162394 ( = 0.019) and rs25681 ( = 0.044)-associated with the asthmatic condition, which were not differentially distributed in the rhinoconjunctivitis group. The rs25681 SNP, together with three other SNPs, also resulted in not being homogenously distributed in the Italian population. The significantly higher frequency of the rs25681 and rs1162394 SNPs (located, respectively, in the and genes) in the asthmatic population suggests an involvement of these genes in the asthmatic context, playing a role in increasing the inflammatory condition that may influence asthma onset and clinical course.
哮喘是一种复杂且异质性的疾病,由遗传和环境因素相互作用引起,在儿童中以过敏为主要背景。特定基因在哮喘支气管反应性中的作用尚不清楚,可能是因为与其他过敏疾病有许多共同途径。本研究集中于先前在全基因组关联研究中确定的 11 个可能与哮喘相关的 SNP。这些 SNP 的遗传变异性已在 773 名意大利健康对照人群中进行了分析,并通过对 108 名患有哮喘的儿童与对照进行基因分型分析,评估了多态性与哮喘发病之间的相关性。此外,还将一组仅患有过敏性鼻结膜炎的 171 名患者纳入病例对照分析。哮喘患者与健康对照组之间等位基因频率的比较确定了两个与哮喘相关的 SNP-rs1162394( = 0.019)和 rs25681( = 0.044),它们在鼻结膜炎组中没有差异分布。rs25681 SNP 与另外三个 SNP 一起,在意大利人群中也没有均匀分布。rs25681 和 rs1162394 SNP(分别位于 和 基因中)在哮喘人群中的频率显著升高,提示这些基因参与哮喘发病,在增加可能影响哮喘发病和临床过程的炎症状态方面发挥作用。