Evaluation of ADAM33 gene’s single nucleotide polymorphism variants against asthma and the unique pattern of inheritance in Northern and Central Punjab, Pakistan

Abstract

Objectives: To investigate the relationship of 3 single nucleotide polymorphism (SNP) variants of ADAM33 with asthma susceptibility in patients from Northern and Central Punjab, Punjab, Pakistan. Methods: In this case-control study, healthy and asthmatic participants were recruited between 2015 and 2017. The SNPs of ADAM33 gene, rs2280089, rs2280090, and rs2280091 were analyzed in 296 asthma patients and 343 healthy controls, as well as linkage disequilibrium and haplotype analysis. Results: The non-significant differences were observed in allele and genotype frequencies of the SNPs in asthmatic and healthy persons even after population stratification based on age, caste, gender, family history, and environment. Although these SNPs were non-significant for disease susceptibility among children and adults, a fixed unique pattern of inheritance was nevertheless observed for the studied SNPs. Linkage disequilibrium analysis presented a very strong linkage between the SNP variants to predict their co-inheritance in study population. However, none of the haplotypes were found to be associated with asthma disease development. Conclusion: The studied SNPs of ADAM33 appeared to be non-significant for asthma susceptibility in Northern and Central Punjabi population. The fixed allele combination inheritance pattern was a unique observation contrary to findings in other global populations.

CPEB3 Targets E-Cadherin mRNAs in a Post-Transcriptional Regulation Manner and Inhibits the Invasiveness of Ovarian Cancer Cells

“…The different studies, especially GWAS, have identified several genomic variants in asthma-susceptible genes which are associated with disease and regulate the expression of their corresponding genes (Naeem, 2022;Sabar et al, 2018Sabar et al, , 2020. Several genomic variants have been reported as highly significant in GWAS in large cohorts but lack similar association in replica studies on different ethnicities which are driving forces for researchers to find the true diagnostic and prognostic markers in different ethnic populations (Ghani et al, 2017(Ghani et al, , 2019a.…”

Single Nucleotide Polymorphisms of Transforming Growth Factor-Β1 Gene as Potential Asthma Susceptible Variants in Punjabi Population of Pakistan

“…6,7 Asthma is considered to be a complex genetic syndrome resulting from the interplay of various genes and environmental factors. 6 During last ten years different studies have been performed to identify association of different genes with atopy and asthma related phenotypes globally across various populations [8][9][10][11][12][13][14][15] which reveal that more than 100 genes are responsible for asthma pathogenesis 16 . Transforming growth factor-β (TGF-β) superfamily is an important group of ligands responsible for alveolarization, recruitment of immune cells, endothelial and epithelial barrier functions, platelet aggregation, cell proliferation and differentiation, apoptosis and other biological pathways within the airway.…”