Izvorni znanstveni članak

https://doi.org/10.5562/cca1866

The Arg72Pro Polymorphism of TP53 in Croatian Population

Arijana Zorić ; Division of Molecular Medicine, Ruđer Bošković Institute, Bijenička c. 54, HR-10000 Zagreb, Croatia
Anđela Horvat ; Division of Molecular Medicine, Ruđer Bošković Institute, Bijenička c. 54, HR-10000 Zagreb, Croatia
Melita Balija ; Croatian Institute of Transfusion Medicine, Petrova 3, HR-10000 Zagreb, Croatia
Neda Slade orcid.org/0000-0003-3620-3099 ; Division of Molecular Medicine, Ruđer Bošković Institute, Bijenička c. 54, HR-10000 Zagreb, Croatia

Sažetak

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.
(doi: 10.5562/cca1866)

Ključne riječi

tumor suppressor gene p53; p73; SNP; Arg72Pro

Hrčak ID:

84546

URI

https://hrcak.srce.hr/84546

Datum izdavanja:

11.5.2012.

Posjeta: 2.456 *