Abstract
Single nucleotide polymorphisms of TP53 gene in human populations are expected to cause perturbation of p53 function, and therefore could influence risk and/or progress of disease. There are differences in inducing apoptosis, cell cycle arrest, transcriptional activity, protein interactions between variants in codon 72 (Arg72Pro), although the association of polymorphism and risk of cancer is controversial. The aim of our study was to investigate the frequency of alleles and genotypes of Arg72Pro polymorphism in the ethnically homogenous Croatian population and to compare it with the worldwide populations. In a cohort of 576 participants the genotype frequencies of Arg/Arg, Arg/Pro and Pro/Pro are 54.34, 38.71 and 6.95 %, respectively. We statistically sorted the population of Croatia into the same group with other European populations and Caucasians from North America. This finding is important for the molecular pathways studies involved in disease as well as in pharmacogenetic studies.
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