New variants of the DAD1 and OXA1L genes are associated with asthma and atopy in an adult population.

IF 2.6 3区 生物学 Q2 GENETICS & HEREDITY Gene Pub Date : 2025-02-10 Epub Date: 2024-11-28 DOI:10.1016/j.gene.2024.149124
Anaque O Pires, Louise C de Lima, Candace M de Andrade, Raísa S Coelho, Hátilla Dos S Silva, Gerson A Queiroz, Jamille Fernandes, Gabriela P Pinheiro, Álvaro A Cruz, Ryan Dos S Costa, Camila A V Figueiredo
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Abstract

Asthma is a complex disease characterized by reversible and intermittent airway obstruction that has shown a high prevalence and unacceptable mortality in adults. In recent years, several genome-wide association studies (GWAS) have identified variants linked to asthma susceptibility. The DAD1 gene is known for regulating programmed cell death, and OXA1L is described for its involvement in mitochondrial biogenesis and oxidative phosphorylation. The present study aimed to identify variants in the DAD1 and OXA1L genes and to evaluate the association with asthma and atopy markers in adults. 1,084 individuals were divided into mild to moderate asthma, severe asthma, and participants with no asthma (controls). Association analyses were performed using a multivariate logistic regression model adjusted for sex, age, body mass index (BMI), smoking, forced expiratory volume in 1 s (FEV1), and component ancestry master (PC1) using PLINK 1.9 software. This study identified new variants in the DAD1 and OXA1L genes that had never been described before. The C allele of rs200470407 in OXA1L was negatively associated with poor asthma control (OR: 0.32; p-value 0.049) and increased IL-13 (p-value < 0.0001). The alternative allele of rs1681577 was associated with severe asthma (OR: 2.23; p-value 0.01), pulmonary obstruction (OR: 4.12; p-value 0.046), and eosinophilia (OR: 2.42; p-value < 0.001). Our findings demonstrate that variants in the DAD1 and OXA1L genes are linked to asthma and atopy in Brazilian adults.

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DAD1和oxa1基因的新变异与成人哮喘和特应性反应有关。
哮喘是一种以可逆性和间歇性气道阻塞为特征的复杂疾病,在成人中显示出高患病率和不可接受的死亡率。近年来,一些全基因组关联研究(GWAS)已经确定了与哮喘易感性相关的变异。DAD1基因被认为是调控程序性细胞死亡的基因,而OXA1L则被描述为参与线粒体生物发生和氧化磷酸化。本研究旨在鉴定DAD1和OXA1L基因的变异,并评估其与成人哮喘和特应性标志物的关系。1084人被分为轻度至中度哮喘、重度哮喘和无哮喘(对照组)。采用多变量logistic回归模型进行关联分析,校正性别、年龄、体重指数(BMI)、吸烟、1 s用力呼气量(FEV1)和成分祖先主值(PC1),采用PLINK 1.9软件。这项研究发现了DAD1和OXA1L基因的新变异,这些变异以前从未被描述过。oxa1中rs200470407的C等位基因与哮喘控制不良呈负相关(OR: 0.32;p值0.049),IL-13升高(p值0.049)
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来源期刊
Gene
Gene 生物-遗传学
CiteScore
6.10
自引率
2.90%
发文量
718
审稿时长
42 days
期刊介绍: Gene publishes papers that focus on the regulation, expression, function and evolution of genes in all biological contexts, including all prokaryotic and eukaryotic organisms, as well as viruses.
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