Research suggests that specific PHACTR1 and SLC22A3 gene polymorphisms may offer protection against coronary artery disease (CAD) in the Chinese Han male population. (PMID: 27893421)
PHACTR1 is considered a key candidate gene for atherosclerosis due to its regulation by atherogenic stimuli in macrophages and endothelial cells. (PMID: 27187934)
Activation of Slack K(+) channels alters mass at the plasma membrane by triggering dissociation of Phactr-1. (PMID: 27545877)
CRISPR-edited stem cell-derived endothelial cells demonstrate that rs9349379, a common single nucleotide polymorphism (SNP) within the 3rd intron of the PHACTR1 gene, regulates the expression of endothelin 1 (EDN1), a gene located 600 kb upstream of PHACTR1. The known physiological effects of EDN1 on the vasculature may explain the association with risk for various vascular diseases. (PMID: 28753427)
Studies investigating the role of two polymorphisms (rs2026458 and rs9349379) of the PHACTR1 gene in premature coronary artery disease (CAD) susceptibility in the Mexican population suggest that the PHACTR1 rs9349379 polymorphism plays a significant role in the risk of developing premature CAD in this population. (PMID: 27517945)
Analysis of PHACTR1 expression by genotypes in primary human fibroblasts showed higher expression in carriers of the rs9349379-A allele. Phactr1 knockdown in zebrafish resulted in dilated vessels, indicating subtle impairment of vascular development. (PMID: 27792790)
There was no significant association observed between the presence of risk alleles of rs12526453 and coronary heart disease in an Iranian population. (PMID: 28287809)
Research findings highlight the pivotal role of phactr-1 protein in the pathogenesis of atherosclerosis. (PMID: 26362351)
Individuals with the rs12526453 CC homozygotes (previously associated with increased risk of myocardial infarction) demonstrated better long-term survival in two independent studies. (PMID: 26086777)
Genome-wide association studies (GWAS) of 1,393 cervical artery dissection cases and 14,416 controls indicated that the rs9349379[G] allele was associated with a lower risk of cervical artery dissection. This association was confirmed in independent follow-up samples. (PMID: 25420145)
A novel signaling pathway has been identified in which TGF-beta silences the expression of miR-584, leading to enhanced PHACTR1 expression and subsequent actin rearrangement and breast cancer cell migration. (PMID: 23479725)
GWAS analyses from related cardiovascular studies identified three significant loci: PHACTR1 in large-vessel disease (P=2.63e(-6)), PITX2 in cardioembolic stroke (P=4.78e(-8)), and ZFHX3 in cardioembolic stroke (P=5.50e(-7)). (PMID: 23042660)
GWAS results support a central role for PHACTR1 in CAD susceptibility, regardless of lifestyle and ethnic variations. (PMID: 22745674)
Phactr-1 is a key component in the angiogenic process. (PMID: 21939755)
Research findings indicate that PHACTR-1 is likely a key regulator of endothelial cell function properties. (PMID: 21798305)
Observational studies examining gene-disease association and gene-gene interaction. (HuGE Navigator) (PMID: 20738937)
Observational studies examining gene-disease association. (HuGE Navigator) (PMID: 20971364)
Clinical trials investigating gene-disease association and gene-environment interaction. (HuGE Navigator) (PMID: 20379614)
Observational studies and genome-wide association studies examining gene-disease association. (HuGE Navigator) (PMID: 19198609)