@inbook{
author = "Kuveljić, Jovana and Djurić, Tamara",
year = "2023",
abstract = "Gen za regulator protein fosfataze i aktina 1 (eng. protein phosphatase and actin regulator 1, PHACTR1) je
ušao u žižu interesovanja kada je u studijama asocijacije na celokupnom genomu pokazao značajnu
povezanost sa različitim fenotipovima kardiovaskularnih bolesti (KVB). Nekoliko validacionih studija je istaklo
uticaj varijanti gena PHACTR1 na koronarnu bolest, infarkt miokarda, kalcifikaciju arterija i disekciju
cervikalnih arterija. Vodeća varijanta rs9349379 je pokazala protektivan ili štetan efekat na KVB, jasno
definišući podelu na bolesti u čijoj osnovi je ateroskleroza i one do kojih dovode drugi procesi. U srpskoj
populaciji, analiziran je haplotipski efekat tri varijante gena PHACTR1, rs9349379 A/G, rs2026458 C/T i
rs2876300 A/G, na aterosklerozu karotidnih i koronarnih arterija, kao i njihov efekat na transkripciju gena
PHACTR1 u karotidnom plaku i mononuklearnim ćelijama periferne krvi. Na ovom polju se vodi
dugogodišnja polemika oko toga da li je varijanta rs9349379 povezana sa KVB preko funkcionalnog uticaja
na PHACTR1 ili na gen za endotelin 1, EDN1. U funkcionalnim studijama je predloženo nekoliko mehanizama
delovanja PHACTR1 na kardiovaskularni sistem imajući u vidu da interaguje sa dva esencijalna
ćelijska proteina, protein fosfatazom 1 i G-aktinom. U ovom radu dat je pregled dosadašnjih istraživanja
PHACTR1 u KVB., Protein phosphatase and actin regulator 1 (PHACTR1) gene entered the spotlight when it showed a significant
association with various phenotypes of cardiovascular diseases (CVD) in genome-wide association
studies. Several validation studies have highlighted the impact of PHACTR1 variants on coronary artery
disease, myocardial infarction, arterial calcification, and cervical artery dissection. The leading PHACTR1
variant rs9349379 showed a protective or pathogenic effect on CVD, clearly defining the division into atherosclerosis-
based diseases and those caused by other processes. In Serbian population, analysis has been
conducted on haplotype effect of three PHACTR1 gene variants, rs9349379 A/G, rs2026458 C/T and
rs2876300 A/G, on carotid and coronary atherosclerosis, as well as their effect on PHACTR1 mRNA level in
carotid plaque tissue and peripheral blood mononuclear cells. However, there is a long-standing controversy
about whether the rs9349379 variant is associated with CVD through a functional effect on PHACTR1
or on the endothelin 1 gene, EDN1. Several mechanisms of action of PHACTR1 on the cardiovascular system
have been proposed in functional studies, considering that it interacts with two essential cellular proteins,
protein phosphatase 1 and G-actin. This paper provides an overview of the up to date research
conducted on the PHACTR1 in CVD.",
publisher = "Beograd : Institut za molekularnu genetiku i genetičko inženjerstvo",
journal = "PHACTR1 in cardiovascular diseases: from genome-wide association studies to functional studies",
booktitle = "PHACTR1 u kardiovaskularnim bolestima: od studija asocijacije na celokupnom genomu do funkcionalnih studija",
pages = "137-122",
number = "3",
url = "https://hdl.handle.net/21.15107/rcub_imagine_2251"
}
