A report on asthma genetics studies in Pakistani population

Muhammad Usman Ghani, Muhammad Farooq Sabar, Mariam Shahid, Farheena Iqbal Awan, Muhammad Akram


Pakistan is globally sixth most populous, economically developing south Asian country with tremendously increasing trend of urbanization. This increase in urbanization along with consanguineous marriages trend in Pakistani nationals might contribute as most important factors of increasing asthma prevalence.

Up-till now, a few studies related to asthma genetics have been conducted in Pakistan. These studies suggest that the SNP variants like (rs2569190, rs2569191), (rs2243250, rs2227284), (rs1800896), (rs1881457, rs20541, rs1800925), (rs2280091, rs2787094, rs528557), (rs1131882) in CD14, IL-4, IL10, IL-13, ADAM33 and TBXA2R genes respectively and the SNPs (rs3816470, rs6503525, rs3859192, rs12603332) on chromosomal region 17q21 are significantly associated in Pakistani population whereas the haplotype “CCTCAG" of SNPs (rs12936231, rs7216389, rs7216558, rs9894164, rs1007654 and rs7212938) in 17q21 and ‘AAGTCG’ of SNPs (rs2280089, rs2280090, rs2280091, rs44707, rs528557, and rs612709) in ADAM-33 region are protective factor against asthma susceptibility.

These studies will definitely contribute in understanding genetic basis of asthmatic complications in Pakistan and large population cohort size and sub-ethnic studies in future will give more meaningful conclusions to predict possible asthma susceptible genomic variants in sub-ethnic and general population of Pakistan.


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