Baek Eun Ju, Jung Hae Un, Ha Tae-Woong, Kim Dong Jun, Lim Ji Eun, Kim Han Kyul, Kang Ji-One, Oh Bermseok
Department of Biomedical Science, Graduate School, Kyung Hee University, Seoul, Korea.
Department of Biochemistry and Molecular Biology, School of Medicine, Kyung Hee University, Seoul, Korea.
Front Genet. 2022 Mar 30;13:765502. doi: 10.3389/fgene.2022.765502. eCollection 2022.
Asthma is among the most common chronic diseases worldwide, creating a substantial healthcare burden. In late-onset asthma, there are wide global differences in asthma prevalence and low genetic heritability. It has been suggested as evidence for genetic susceptibility to asthma triggered by exposure to multiple environmental factors. Very few genome-wide interaction studies have identified gene-environment (G×E) interaction loci for asthma in adults. We evaluated genetic loci for late-onset asthma showing G×E interactions with multiple environmental factors, including alcohol intake, body mass index, insomnia, physical activity, mental status, sedentary behavior, and socioeconomic status. In gene-by-single environment interactions, we found no genome-wide significant single-nucleotide polymorphisms. However, in the gene-by-multi-environment interaction study, we identified three novel and genome-wide significant single-nucleotide polymorphisms: rs117996675, rs345749, and rs17704680. Bayes factor analysis suggested that for rs117996675 and rs17704680, body mass index is the most relevant environmental factor; for rs345749, insomnia and alcohol intake frequency are the most relevant factors in the G×E interactions of late-onset asthma. Functional annotations implicate the role of these three novel loci in regulating the immune system. In addition, the annotation for rs117996675 supports the body mass index as the most relevant environmental factor, as evidenced by the Bayes factor value. Our findings help to understand the role of the immune system in asthma and the role of environmental factors in late-onset asthma through G×E interactions. Ultimately, the enhanced understanding of asthma would contribute to better precision treatment depending on personal genetic and environmental information.
哮喘是全球最常见的慢性病之一,造成了巨大的医疗负担。在迟发性哮喘中,全球哮喘患病率存在广泛差异,且遗传 heritability 较低。这被认为是暴露于多种环境因素引发哮喘的遗传易感性的证据。很少有全基因组相互作用研究确定成人哮喘的基因 - 环境(G×E)相互作用位点。我们评估了迟发性哮喘的遗传位点,这些位点显示与多种环境因素存在 G×E 相互作用,包括酒精摄入、体重指数、失眠、身体活动、精神状态、久坐行为和社会经济地位。在基因与单一环境相互作用中,我们未发现全基因组显著的单核苷酸多态性。然而,在基因与多环境相互作用研究中,我们确定了三个新的全基因组显著单核苷酸多态性:rs117996675、rs345749 和 rs17704680。贝叶斯因子分析表明,对于 rs117996675 和 rs17704680,体重指数是最相关的环境因素;对于 rs345749,失眠和酒精摄入频率是迟发性哮喘 G×E 相互作用中最相关的因素。功能注释表明这三个新位点在调节免疫系统中发挥作用。此外,rs117996675 的注释支持体重指数作为最相关的环境因素,贝叶斯因子值证明了这一点。我们的发现有助于通过 G×E 相互作用理解免疫系统在哮喘中的作用以及环境因素在迟发性哮喘中的作用。最终,对哮喘的深入理解将有助于根据个人遗传和环境信息实现更好的精准治疗。