GENETIC ASSOCIATIONS WITH ASTHMA IN THE KAZAKH POPULATION: A CASE-CONTROL STUDY FOCUSING ON ACTN3 AND TSBP1 POLYMORPHISMS.

Abstract

Background: Asthma is a prevalent chronic respiratory disease that significantly impacts the quality of life. Genetic factors, particularly single nucleotide polymorphisms (SNPs), play a crucial role in asthma susceptibility. This study investigates the genetic determinants associated with asthma in the Kazakh population, focusing on SNPs within the ACTN3 and TSBP1 genes.

Materials and methods: A case-control study was conducted involving 600 participants, with 300 diagnosed with asthma and 300 healthy controls. Participants were recruited from 17 regions across Kazakhstan. Genomic DNA was extracted, and 120 SNPs were selected for analysis. Genotyping was performed using the QuantStudio 12K Flex Real-Time PCR System. Statistical analyses included the Mann-Whitney U test, χ2 tests, and calculation of odds ratios (OR) to evaluate the association between SNPs and asthma.

Results: Significant associations were found between asthma and two SNPs: rs540874 in the ACTN3 gene and rs3132954 in the TSBP1 gene. The G allele of rs540874 (MAF 0.71 in cases vs. 0.30 in controls, p-value = 4.78×10^-14) and the G allele of rs3132954 (MAF 0.54 in cases vs. 0.10 in controls, p-value = 1.33×10^-12) were associated with increased asthma susceptibility. The findings suggest a potential protective role of the A/A genotype in asthma.

Conclusion: This study identifies significant genetic markers associated with asthma in the Kazakh population, highlighting the complex interplay between genetic and environmental factors in the disease's pathogenesis. The results contribute to the understanding of asthma's genetic underpinnings and may inform the development of personalized medical interventions tailored to genetic profiles, advancing the field of precision medicine for asthma management.