ASSOCIATION OF 1359 G/A POLYMORPHISM OF CNR1 GENE AND CHRONIC OBSTRUCTIVE PULMONARY DISEASE IN PAKISTANI POPULATION

Background: Chronic obstructive pulmonary disease (COPD) is slowly progressing respiratory disease that leads to alveoli blockage and difficulty in breathing. The objective of this study was to determine the association of 1359 G/A polymorphism of central cannabinoid receptor 1 (CNR1) gene and chronic obstructive pulmonary disease in Pakistani population. Materials & Methods: We investigated CNR1 single nucleotide polymorphism at the location 1359 G/A (p.Thr453Th; rs1049353) in 180 COPD patients and 194 healthy individuals In Department of Biology, Virtual University, Lahore, Pakistan in 2014-2015. DNA samples were extracted from venous leukocytes by using standard method, amplified (PCR) and digested (RFLP). Restriction digests were evaluated by 8% polyacrylamide gel. Frequencies of homozygous and heterozygous variants of 1359 G/A polymorphism were analyzed. Results: Genotype distribution AA, GG, GA of CNR1 gene in COPD patients was 1.1%, 68.3% and 30.5% versus controls 3.1%, 56.0% and 40.8% respectively. The heterozygous genotype distribution (GA) was observed higher in patients 68.3% than controls 56%. Allele frequencies A and G of CNR1 gene were 0.311 and 0.688 in controls versus 0.353 and 0.646 in patients respectively. The A allele variant frequency was higher in patients 35.3% than controls 31.1%. Results indicated that polymorphism of CNR1 gene located at 1359 may have association with COPD disease. Conclusions: Our study gave clue for association of COPD with 1359 G/A polymorphism of central cannabinoid receptor 1 (CNR1) gene in Pakistani population. Further studies are needed to elucidate the relationship of CNR1 gene to COPD by larger sample sizes.