Association of ORMDL3 single nucleotide polymorphic variants with bronchial asthma in Pathan population

• Published in: Gene reports 2024-09, Vol.36, p.101958, Article 101958
• Main Authors: Safir, Waqas, Altaf, Saba, Jan, Peerzada Fawad Ullah, Shujaat, Nodia, Khan, Fahim Ullah, Rehman, Atia, Kousar, Samra, Ghani, Muhammad Usman, Sabar, Muhammad Farooq, Shahid, Mariam
• Format: Article
• Language: English
• Subjects: Capillary electrophoresis; Case-control association study; Genotype; Single Base extension; SNP typing
• ISSN: 2452-0144; 2452-0144
• DOI: 10.1016/j.genrep.2024.101958

Single nucleotide polymorphic variants of chromosome 17q21 potential candidate genes have been found to associate with asthma predisposition in many ethnically diverse populations. Identifying the potential SNPs, that are associated with asthma in a certain population, may lead to early diagnosis of genetic predisposition, thus reducing the treatment cost by timely management. This research work was planned to study the association of SNPs residing on chromosome 17q21, with asthma, in the Pathan population of Pakistan. Sixty- two physician-diagnosed bronchial asthma cases and one hundred, age and gender-matched, control subjects of the Pathan ethnic group were enrolled for this study. Five SNPs from 17q21 were analyzed for their association with asthma by the Single Base Extension method using capillary-based electrophoresis. Allelic, dominant and recessive genotypic association analyses were done by PLINK and SHEsis plus version beta software, followed by Haploview v4.1 analysis of relevant haplotypes. Out of five studied SNPs, rs8076131 was significantly associated with bronchial asthma whereas rs9894164 tended to show a marginal association. Haplotype ‘TATT’ seemed to be a marginal risk factor associated with bronchial asthma in the studied population. rs8076131 may be used as a predictive indicator of Bronchial Asthma development in risk allele carriers of Pathan ethnicity. [Display omitted] •SNP rs8076131 is significantly linked to bronchial asthma, indicating its predictive value for Pathan ethnicity carriers.•SNP rs9894164 tended to show a marginal association with bronchial asthma.•Haplotype 'TATT' is a marginal risk factor for bronchial asthma in the studied population.