Association Of ADAM33 SNP (RS528557) Gene Polymorphism With COPD In Pakistani Population

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Chronic obstructive pulmonary disease (COPD) is a major health Problem worldwide. It is currently the fourth leading cause of death with the highest morbidity and mortality throughout the world. ADAM33 has been implicated in the etiology of asthma, another obstructive pulmonary disease. Research shows that its genetic polymorphism may play a pivotal role in COPD pathophysiology; however, data is still inconclusive and no research has been done on it in Pakistan. A total of 102 subjects (51 cases + 51 controls) were recruited. Blood samples were drawn for deoxyribonucleic acid (DNA) isolation from individuals. DNA extraction and Polymerase Chain Reaction (PCR) was optimized and restriction fragment length polymorphism (RFLP) was carried out by incubation at 37οC with digesting enzyme’ Fsel’ for minor allele rs528557. Data was analyzed by using SPSS version 26.0. Data for age, pack smoking/year, frequency of exacerbation and BMI was described by mean ± SD. Alleles and genotypes were described as proportions and percentages. Comparison of the said variables between two groups was performed by Chi-Square as applicable. G allele was found in all cases (100%) and in 74.5% controls at p= <0.001. On the other hand, the frequency of minor allele C was 11.8% and 29.4% in cases and controls respectively at p=0.03. Homozygous major genotype (G/G) was 88.2%, in controls versus 70.6% in cases (p=0.09). Heterozygous genotype (G/C) was 9.2% in controls and 25.5% in cases. Similarly homozygous minor genotype (C/C) was 0.8% in controls and 3.9% in cases respectively at p=0.56. Thus, we show that G allele of rs528557 may be associated with risk of COPD in Pakistani subjects.