engleski

Diversity of ACE and ACTN3 Polymorphisms in Bosnian- Herzegovinian Populations.

Human ACE gene encodes angiotensin I-converting enzime with a key role in renin-angiotensin (RAS) and kinin-kallikrein (KKS) systems in the regulation of hemodynamics. ACTN3 gene encodes the muscle α-actinin-3 isoform that stabilises the muscle contractile apparatus. ACE I/D and ACTN3 R577X polymorphisms are both extensively studied for possible association with the human physical performance. Aim was to estimate diversity of ACE and ACTN3 polymorphisms in population of Bosnia and Herzegovina and to evaluate possible association of these gene variants, gender and sports activity. Genomic DNA was extracted from blood and buccal epithelial cells using salting- out method. Total of 242 unrealted healthy individuals were tested, with regard to their gender (N=132 women, N=110 men) and sports activity (N=90 active, N=152 non-active). Genotyping was done by PCR with locus-specific primers. Statistical analyses revealed no significant differences in genotype and allele frequencies of both ACE/ACTN3 genes in Bosnian- Herzegovinians, as well as between compared subgroups of men and women, athletes and non- athletes (P=0.05). Allele frequency distribution showed no deviation from Hardy-Weinberg equilibrium. We also compared our data with available data of other populations. Since no extensive research studies of ACE and ACTN3 genes were conducted in Bosnian-Herzegovinian population, except a few clinical studies, this study can provide further information about genetic diversity of human populations in western Balkan region. It can also serve as an incentive for future studies with larger number of variables, larger cohorts, as well as more applicative context in terms of developing more individualized approach in sports training.

ACE, ACTN3 gene variants, genetic diversity, Bosnian-Herzegovinians

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