Abstract
Chronic obstructive pulmonary disease (COPD) is a multifactorial chronic respiratory disease, characterized by an obstructive pattern. Understanding the genetic predisposition of COPD is essential to develop personalized treatment regimens. MicroRNAs (miRNAs) are small, endogenous, non-coding RNAs that modulate the expression levels of specific proteins based on sequence complementarity with their target mRNA molecules. Emerging evidences demonstrated the potential use of miRNAs as a disease biomarker. This pilot study aimed to investigate the association of the MIR-196a2 rs11614913 (C/T) polymorphism with COPD susceptibility, the clinical outcome and bronchodilator response to short-acting β2-agonist. Genotyping of rs11614913 polymorphism was determined in 108 COPD male patients and 116 unrelated controls using real-time polymerase chain reaction technology. In silico target prediction and network core analysis were performed. COPD patients did not show significant differences in the genotype distribution (p = 0.415) and allele frequencies (p = 0.306) of the studied miRNA when compared with controls. There were also no associations with GOLD stage, dyspnea grade, disease exacerbations, COPD assessment test for estimating impact on health status score, or the frequency of intensive care unit admission. However, COPD patients with CC genotype corresponded to the smallest bronchodilator response after Salbutamol inhalation, the heterozygotes (CT) had an intermediate response, while those with the TT genotype showed the highest response (p < 0.001). In conclusion MIR-196a2 rs11614913 polymorphism is associated with the bronchodilator response of COPD in our sample of the Egyptian population, generating hypothesis of the potential use of MIR-196a2 variant as a pharmacogenetic marker for COPD.
Highlights
Chronic obstructive pulmonary disease (COPD) is a main cause of morbidity and mortality worldwide and represents a large and increasing burden to the health care system [1, 2]
We found that this SNP in pre-miR196a2 had no dramatic effect on its secondary structure computed based on the minimum free energy using miRNAMap 2.0 and RNAfold server
Aberrant expression profile of MIR-196a2 was previously reported in various pulmonary diseases [3]
Summary
Chronic obstructive pulmonary disease (COPD) is a main cause of morbidity and mortality worldwide and represents a large and increasing burden to the health care system [1, 2]. COPD prevalence is continually increasing and it is predicted to become the third leading cause of death worldwide by 2020 [3]. It is a heterogeneous disease defined by the persistent airflow limitation that is usually progressive and an enhanced chronic inflammatory response of the lung to noxious particles and gases [4]. COPD is characterized by two distinct and frequently coexisting aspects: small airway abnormalities and parenchymal destruction [or emphysema] [5]. Understanding the genetic predisposition of COPD is essential to develop early personalized treatment regimens [4]
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