|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
De novo PHACTR1 mutations in West syndrome and their pathophysiological effects.
|
30256902 |
2018 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.
|
27457812 |
2017 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Diagnostic exome sequencing in persons with severe intellectual disability.
|
23033978 |
2012 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
PHACTR1 intronic variants have been associated with coronary artery disease and carotid dissection.
|
31200082 |
2019 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Logistic regression analyses revealed that PHACTR1 rs9349379 GG genotype was significantly associated with increased risk of CAD in the recessive model (OR=2.359, 95% CI 1.442 to 3.862, p=0.001), even after adjusting for age gender, hypertension, type 2 diabetes, hyperlipidaemia and smoking habit.
|
30777881 |
2019 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In the present study, we have shown that the rs12526453 single-nucleotide polymorphism of the PHACTR1 gene is significantly associated with a 50% reduction in the odds of CAD events in FH subjects.
|
29784573 |
2019 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Thus, we performed the present meta-analysis to explore associations between PHACTR1 polymorphisms and CAD in a larger pooled population.
|
31278837 |
2019 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.
|
29212778 |
2018 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genome-wide association studies have showed that genetic variants in phosphatase and actin regulator 1 (PHACTR1) are associated with coronary artery disease and myocardial infarction.
|
30293016 |
2018 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This result suggests that rs9349379 may in part influence CAD by modulating the expression of intermediate PHACTR1 transcripts in endothelial or vascular smooth muscle cells found in hCA.
|
29884117 |
2018 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
|
30104761 |
2018 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Coronary artery disease associated gene Phactr1 modulates severity of vascular calcification in vitro.
|
28720499 |
2017 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Association analyses based on false discovery rate implicate new loci for coronary artery disease.
|
28714975 |
2017 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genome-wide association studies (GWASs) implicate the PHACTR1 locus (6p24) in risk for five vascular diseases, including coronary artery disease, migraine headache, cervical artery dissection, fibromuscular dysplasia, and hypertension.
|
28753427 |
2017 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Genetic analysis in UK Biobank links insulin resistance and transendothelial migration pathways to coronary artery disease.
|
28714974 |
2017 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
PHACTR1 and SLC22A3 gene polymorphisms are associated with reduced coronary artery disease risk in the male Chinese Han population.
|
27893421 |
2017 |
|
Coronary Artery Disease
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
We hypothesized that PHACTR1 would be expressed in human cell types relevant to CAD and regulated by atherogenic or genetic factors.
|
27187934 |
2016 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In summary, our results suggest that the PHACTR1 rs9349379 polymorphism plays an important role in the risk of developing premature CAD in the Mexican population.
|
27517945 |
2016 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We also took advantage of the fact that penalized methods are an efficient approach to search for gene-by-gene interactions, and observed that two-way interactions between the PHACTR1 and ADAMTS7 loci and between the SH2B3 and COL4A1 loci contribute to CAD risk.
|
26982883 |
2016 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Recently, certain polymorphisms in the phosphatase and actin regulator 1 (PHACTR1) gene have been shown to be associated with CVD (i.e., coronary artery disease, coronary artery calcification, early onset myocardial infarction, cervical artery dissection and hypertension) in different ethnic groups.
|
27876132 |
2016 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The top variant, rs9349379, is intronic to PHACTR1, a risk locus for coronary artery disease, migraine, and cervical artery dissection.
|
27792790 |
2016 |
|
Coronary Artery Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
How these PHACTR1 SNPs influence CAD/MI risk, and whether PHACTR1 itself is the causal gene at the locus, is currently unknown.
|
25838425 |
2015 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
I have read with interest the recent paper by Han and coworkers on the putative effects of a PHACTR1 variant in the context of coronary artery disease.
|
25938970 |
2015 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease.
|
26343387 |
2015 |