Single Nucleotide Polymorphisms (SNPs) and Asthma: A Population-Based Risk Association Study in Pakistan

Abstract

Abstract

Objective: Asthma is characterized by recurring symptoms of reversible airflow obstruction, with episodes of wheezing, coughing, chest tightness and shortness of breath. This study aimed to determine possible associations between asthma and single nucleotide polymorphisms (SNPs) in patients living in the heavily polluted Faisalabad and Multan regions of Pakistan. Methods: In this case-control study, we conducted an association analysis on rs2280090, rs2787094 (ADAM33), rs3816470 (IKZF3), rs7216389 (GSDMB), rs3859192 (GSDMA) and rs1695 (GSTP1) in a Pakistani cohort of 275 patients with asthma and 400 healthy control subjects. Association was determined by basic allelic and genotypic models, and results were adjusted by logistic regression analysis using GraphPad Prism7 software. Results: Significant differences in the genotype and allele frequencies for rs2787094, rs3816470, rs1695 and rs7216389 were found among patients and controls (p< 0.05). SNPs rs3859192 and rs2280090 indicated a protective role, while the wild-type forms suggested an increased susceptibility to the disease. SNP rs2280090 showed a significant protective association in the heterozygous model. Results were evaluated based on three patient groups determined by age of asthma onset, as follows:< age five (n = 3); between ages 5 – 18 (n = 117), and > age 18 (n = 155). Conclusion: This study provides ample evidence supporting the role of the ADAM33, IKZF3 and GSDMB genes as asthma susceptibility genes in a Pakistani population exposed to heavy air pollution.