Investigation the role of ADRB2 rs1042713 and rs1042714 polymorphisms among COPD patients of West Bengal population, India

Abstract

Background

Chronic obstructive pulmonary disease (COPD) is a complex lung disease characterized by restricted airflow and breathing problems. β2-adrenergic receptor (β2AR) encoded by β2-adrenergic receptor gene (ADRB2) is a transmembrane receptor protein expressed in the airway smooth muscle cells and found to be associated with COPD in various populations. However, no studies were performed in any Indian population so far.

Objectives

The present study aims to investigate the association between ADRB2 polymorphisms rs1042713 and ras1042714 and COPD focusing on their expression analysis on RNA level in West Bengal population, India.

Methods

Epidemiological details including smoking status of 523 patients and 428 controls between 40 and 80 years of age was recorded in self-prepared questionnaire. Spirometry was performed to assess forced expiratory volume in 1 s/forced vital capacity (FEV₁/FVC), FEV₁ and peak expiratory flow rate. Genotyping was done by Polymerase chain reaction-Restriction fragment length polymorphism. qRT-PCR results were calculated using 2-ΔΔCq method.

Results

Genotype frequencies of rs1042713AA and rs1042714CC genotypes were significantly higher in COPD patients than controls (P = 0.02 and 0.01 respectively). Smoker patients with rs1042713AA and rs1042714CC genotypes had significantly lower FEV₁ (P < 0.0001). A linear inverse relationship was found between smoking duration and both FEV₁ and FEV₁/FVC in smoker patients (P < 0.00001). The ADRB2 mRNA expression was significantly decreased in the 46AA/79CC haplotype (P = 0.04) than 46AA/79GG, 46GG/79CC as compared with wild-type haplotype 46GG/79GG.

Conclusion

The present study is the first to report that ADRB2 polymorphisms (rs1042713 and rs1042714) are associated with COPD susceptibility through mRNA expression analysis among West Bengal population, India.