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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引用次数: 0
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.
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.