Association of A1AT genetic polymorphism and NSCLC: a case- control study in Egyptian population

Abstract

Abstract Lung cancer mortality is higher than other forms of cancer. Genetic tendency in cancer sufferers has long been known. Given the link between AATD and numerous lung disorders, it is worth investigating if this genetic trait is linked to a higher risk of developing LC, as the lung is the most afflicted organ in individuals with severe AATD. Methods: a case-control study was performed on 124 (NSCLC) cases with 124 healthy controls from 2021 to 2022, in the oncology center of Mansoura university. Peripheral blood was used to obtain genomic DNA. ARMS-PCR was used to genotype SNPs and other chemical parameters. Result: Molecular study for A1AT rs17580 and rs8004738 genotypes showed that NSCLC cases were significantly associated with a higher proportion of mutant S (T) and mutant Z (A) allele (p = 0.042, 0.041 respectively). Different A1AT genotypes MS, MZ, SS, SZ, ZZ investigated no significant association with NSCLC or NLR. Conclusion: significant impact of S and Z alleles on NSCLC risk and potential benefit for identifying and protecting these individuals who may be vulnerable to carcinogens.