Association between 17q21 variants and asthma predisposition in Pashtun population from Pakistan

Abstract

Objective: Asthma is a heterogeneous and genetically complex respiratory disease, and more than 300 million people are affected worldwide. In this study, frequencies of four SNPs (rs3816470, rs7216389, rs8067378, rs12603332) in chromosome 17q21 region were analyzed and their relationship with the asthma susceptibility, in the Pashtun population of Khyber Pakhtunkhwa province (KPK) of Pakistan were investigated. Methods: DNA samples from 500 subjects (asthma cases/controls) were genotyped by Sanger sequencing. Chi-square tests, logistic regression analysis, linkage disequilibrium, and haplotype analysis techniques were applied to study the association of the SNPs with asthma. Results: Genetic models, including recessive, dominant, co-dominant, over-dominant, and additive, were tested. The frequencies of alleles T/T at rs3816470 (OR = 1.91; 95%CI = 1.15–3.18; p =.011*) and rs7216389 (OR = 2.14; 95%CI = 1.21–3.79; p =.0076*), A/A at rs 8067378 (OR = 1.89; 95%CI = 1.17–3.06; p =.0081*), C/C at rs12603332 (OR = 1.97; 95%CI = 1.18–3.27; p =.008*), under recessive models, respectively, were significantly (p-values