Gene: PHACTR1

Alternate names for this Gene: EIEE70|RPEL|RPEL1|dJ257A7.2

Gene Summary: The protein encoded by this gene is a member of the phosphatase and actin regulator family of proteins. This family member can bind actin and regulate the reorganization of the actin cytoskeleton. It plays a role in tubule formation and in endothelial cell survival. Polymorphisms in this gene are associated with susceptibility to myocardial infarction, coronary artery disease and cervical artery dissection. Alternative splicing of this gene results in multiple transcript variants.

Gene is located in Chromosome: 6

Location in Chromosome : 6p24.1

Description of this Gene: phosphatase and actin regulator 1

Type of Gene: protein-coding

rs11757278 in PHACTR1 gene and Body mass index PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs9369640 in PHACTR1 gene and CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1 PMID 23202125 2013 Large-scale association analysis identifies new risk loci for coronary artery disease.

rs10807323 in PHACTR1 gene and Calcification of coronary artery PMID 22144573 2011 Genome-wide association study for coronary artery calcification with follow-up in myocardial infarction.

PMID 23394302 2013 The second strongest association with CAC was with rs9349379 in the phosphatase and actin regulator 1 gene, PHACTR1, (Beta=0.30; 95% CI=0.22-0.40; p=4.67x10-11).

PMID 22144573 2011 Genome-wide significant associations with CAC for SNPs on chromosome 9p21 near CDKN2A and CDKN2B (top SNP: rs1333049; P=7.58×10(-19)) and 6p24 (top SNP: rs9349379, within the PHACTR1 gene; P=2.65×10(-11)) replicated for CAC and for MI.

rs4714955 in PHACTR1 gene and Cerebrovascular accident PMID 24262325 2014 Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.

rs9357620 in PHACTR1 gene and Circadian Rhythms PMID 26835600 2016 GWAS of 89,283 individuals identifies genetic variants associated with self-reporting of being a morning person.

rs9349379 in PHACTR1 gene and Common Migraine PMID 27322543 2016 Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine.

PMID 23793025 2013 Genome-wide meta-analysis identifies new susceptibility loci for migraine.

rs12526453 in PHACTR1 gene and Coronary Artery Disease PMID 23202125 2013 Large-scale association analysis identifies new risk loci for coronary artery disease.

PMID 28714975 2017 Association analyses based on false discovery rate implicate new loci for coronary artery disease.

PMID 28714974 2017 Genetic analysis in UK Biobank links insulin resistance and transendothelial migration pathways to coronary artery disease.

PMID 26343387 2015 A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease.

PMID 30104761 2018 Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.

PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

PMID 24262325 2014 Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.

rs12526453 in PHACTR1 gene and Coronary heart disease PMID 21347282 2011 Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.

PMID 21378990 2011 Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.

PMID 21378988 2011 A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.

PMID 24262325 2014 Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.

PMID 22745674 2012 Genome-wide association study in a Lebanese cohort confirms PHACTR1 as a major determinant of coronary artery stenosis.

PMID 21846871 2011 A genome-wide association study in europeans and South asians identifies 5 new Loci for coronary artery disease.

PMID 22751097 2012 Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease.

rs9349379 in PHACTR1 gene and Headache PMID 29397368 2018 A Genome-Wide Association Study Finds Genetic Associations with Broadly-Defined Headache in UK Biobank (N=223,773).

rs11757634 in PHACTR1 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs4615376 in PHACTR1 gene and Major Depressive Disorder PMID 25897834 2015 The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response.

rs9349379 in PHACTR1 gene and Migraine Disorders PMID 27322543 2016 Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine.

PMID 22683712 2012 Genome-wide association analysis identifies susceptibility loci for migraine without aura.

PMID 23793025 2013 Genome-wide meta-analysis identifies new susceptibility loci for migraine.

PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

rs12526453 in PHACTR1 gene and Myocardial Infarction PMID 19198609 2009 Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.

PMID 26343387 2015 A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease.

rs9349379 in PHACTR1 gene and Systolic Pressure PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 27618447 2016 Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.

rs4615376 in PHACTR1 gene and response to SSRI PMID 25897834 2015 The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response.