Relationship between the common variants of the ADAM19, FAM13A, and IREB2 Genes and COPD susceptibility and severity

Abstract

Background: Chronic obstructive pulmonary disease (COPD) is a heterogeneous disease caused by both genetic predisposition and environmental factors. Objective: In this study, we aimed to investigate the relationship between the ADAM19, FAM13A, and IREB2 genes and COPD susceptibility and severity. Materials and methods: The clinical data of 110 patients with persistent airway limitation according to the COPD definition of Global Initiative for Chronic Obstructive Lung Disease (GOLD) were collected. The polymerase chain reaction (PCR) test was performed on the DNA extracted from peripheral blood and specific primers. Then, the patients were screened for the common variants of the ADAM19, FAM13A, and IREB2 genes using the BigDye terminator on an ABI Prism 3500 genetic analyzer. Results: Chronic obstructive pulmonary disease was significantly related to the IREB2 rs2568494 GA genotype. In the patients with the FAM13A rs2869967 TC genotype, there was a 3.758-fold increase in respiratory insufficiency risk and a 2.359-fold increase in the modified Medical Research Council (mMRC) dyspnea score ≥ 2 risk. Forced expiratory volume in 1 second (FEV1) was significantly lower in the patients with the ADAM19 rs1422795 AG genotype. The results of this study suggest that the IREB2 heterozygote variant is related to COPD. In patients with COPD with the FAM13A TC variant, the disease pattern is more symptomatic. We also determined that the ADAM19 heterozygote variant was not related to disease susceptibility, but the FEV1 ratio was lower. Conclusion: The ADAM19, FAM13A, and IREB2 genes may contribute to COPD pathophysiology. The associations between COPD and different gene variants investigated in our study are important for the identification of new pathways reflecting COPD heterogeneity.