Association of SFTPB Gene Polymorphisms with Chronic Obstructive Pulmonary Disease (COPD) Susceptibility in the Population of Southern Punjab, Pakistan
Association of SFTPB Gene Polymorphisms with Chronic Obstructive Pulmonary Disease (COPD) Susceptibility in the Population of Southern Punjab, Pakistan
Sadia Shahnawaz1, Asia Bibi1*, Tania Ahmed Shakoori2 and Sajid Malik3
ABSTRACT
Chronic obstructive pulmonary disease (COPD) is a major cause of morbidity and mortality globally and its prevalence is increasing in Pakistan. COPD has heterogeneous etiologies ranging from environmental causes to genetic factors. Single nucleotide polymorphisms (SNPs) in SFTPB gene have been shown to be associated with pathogenicity of COPD. This study was aimed to examine the SNPs in SFTPB gene along with some demographic and clinical parameters in a cohort of COPD ascertained from Southern Punjab, Pakistan, in a case-control study. Three hundred subjects (150 cases and 150 controls) were recruited and four SNPs rs3024791, rs1130866, rs2118177 and rs2304566 were genotyped through ARMS-PCR. Results showed that cigarette smoking and pulmonary function parameters were significant risk factors of COPD in Southern Punjab, Pakistan. Two SNPs, rs1130866 and rs2118177, were significantly associated with pulmonary function. Two of the four studied SNPs, rs1130866 and rs2304566, were found to be significantly associated with COPD in different inheritance models. Haplotype analysis showed that three haplotypes “CCCC”, “CATT” and “TCTT” at the four studied SNPs were significantly associated with reduced risk of COPD and statistically significant linkage disequilibrium was found between two SFTPB gene SNPs rs2118177 and rs2304566. Collectively, our findings show that SNPs in SFTPB may be utilized as predictor of COPD in the study population and may help guide in the prospective personalized medicine.
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