Platelet-Activating Factor Acetylhydrolase Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A mutation in plasma platelet-activating factor acetylhydrolase (Val279Phe) is a genetic risk factor for cerebral hemorrhage but not for hypertension.
|
9759612 |
1998 |
Platelet-Activating Factor Acetylhydrolase Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of the G994--> T missense in exon 9 of the plasma platelet-activating factor acetylhydrolase gene as an independent risk factor for coronary artery disease in Japanese men.
|
9472966 |
1998 |
Platelet-Activating Factor Acetylhydrolase Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A mutation in plasma platelet-activating factor acetylhydrolase (Val279-->Phe) is a genetic risk factor for stroke.
|
9412624 |
1997 |
Platelet-Activating Factor Acetylhydrolase Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Loss of activity of plasma platelet-activating factor acetylhydrolase due to a novel Gln281-->Arg mutation.
|
9245731 |
1997 |
Platelet-Activating Factor Acetylhydrolase Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Platelet-activating factor acetylhydrolase deficiency. A missense mutation near the active site of an anti-inflammatory phospholipase.
|
8675689 |
1996 |
Platelet-Activating Factor Acetylhydrolase Deficiency
|
|
0.800 |
SusceptibilityMutation
|
CLINVAR |
|
|
|
Platelet-Activating Factor Acetylhydrolase Deficiency
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
Coronary heart disease
|
|
0.760 |
GeneticVariation
|
GWASCAT |
Pharmacogenetic meta-analysis of baseline risk factors, pharmacodynamic, efficacy and tolerability endpoints from two large global cardiovascular outcomes trials for darapladib.
|
28753643 |
2017 |
Coronary heart disease
|
|
0.760 |
GeneticVariation
|
BEFREE |
Causal risk ratios for coronary heart disease per 65% lower Lp-PLA<sub>2</sub> activity were: 0.95 (0.88-1.03) with Val279Phe; 0.92 (0.74-1.16) with carriage of any loss-of-function variant; 1.01 (0.68-1.51) with Val379Ala; and 0.95 (0.89-1.02) with darapladib treatment.
|
27940953 |
2017 |
Coronary heart disease
|
|
0.760 |
GeneticVariation
|
BEFREE |
RH + HH genotype, RH genotype, and H allele of R92H were significantly associated with an increased risk of CHD (P = 0.005, P = 0.009, and P = 0.003, respectively), while no associations were observed between V279F and I198T and CHD (A379V was not analyzed because of deviation from Hardy-Weinberg equilibrium).
|
25690150 |
2015 |
Coronary heart disease
|
|
0.760 |
GeneticVariation
|
BEFREE |
Carriage of the V279F null allele within the gene encoding Lp-PLA₂ is protective from coronary artery disease in South Korean males.
|
21490708 |
2011 |
Coronary heart disease
|
|
0.760 |
GeneticVariation
|
BEFREE |
These data suggested that the V279F polymorphism in LP-PLA2 gene may contribute to CHD development.
|
21107710 |
2011 |
Coronary heart disease
|
|
0.760 |
GeneticVariation
|
BEFREE |
The results indicate 92H allele had probably increased the risk of CHD, while the hypothesized effects of A379V and V279F polymorphisms on CHD cannot be confirmed in present data.
|
20926117 |
2010 |
Coronary heart disease
|
|
0.760 |
GeneticVariation
|
BEFREE |
Both single SNP analysis and haplotype analysis showed that the V279F and I198T polymorphisms were significantly associated with the reduced Lp-PLA(2) activity, but neither was associated with increased CHD risk.
|
19034521 |
2009 |
Acute Coronary Syndrome
|
|
0.700 |
GeneticVariation
|
GWASCAT |
Pharmacogenetic meta-analysis of baseline risk factors, pharmacodynamic, efficacy and tolerability endpoints from two large global cardiovascular outcomes trials for darapladib.
|
28753643 |
2017 |
Coronary Artery Disease
|
|
0.040 |
GeneticVariation
|
BEFREE |
Causal risk ratios for coronary heart disease per 65% lower Lp-PLA<sub>2</sub> activity were: 0.95 (0.88-1.03) with Val279Phe; 0.92 (0.74-1.16) with carriage of any loss-of-function variant; 1.01 (0.68-1.51) with Val379Ala; and 0.95 (0.89-1.02) with darapladib treatment.
|
27940953 |
2017 |
Coronary Artery Disease
|
|
0.040 |
GeneticVariation
|
BEFREE |
Lipoprotein-associated phospholipase A2 gene V279F polymorphisms and coronary heart disease: a meta-analysis.
|
21107710 |
2011 |
Coronary Artery Disease
|
|
0.040 |
GeneticVariation
|
BEFREE |
PLA2G7 V279F genotypes were initially compared in 2890 male cases diagnosed with CAD before age 60 with 3128 male controls without CAD at age 50 and above and subsequently in a second independent male dataset of 877 CAD cases and 1230 controls.
|
21490708 |
2011 |
Coronary Artery Disease
|
|
0.040 |
GeneticVariation
|
BEFREE |
Multivariate logistic regression analysis with adjustment for age, body mass index, and the prevalence of smoking, hypertension, diabetes mellitus, and hyperuricemia revealed that three polymorphisms [994G --> T (Val279Phe) in the platelet-activating factor acetylhydrolase gene, 242C --> T (His72Tyr) in the NADH/NADPH oxidase p22 phox gene, and 1100C --> T in the apolipoprotein C-III gene] were significantly associated with CAD in men with hypercholesterolemia.
|
14709372 |
2004 |
Coronary Arteriosclerosis
|
|
0.030 |
GeneticVariation
|
BEFREE |
Causal risk ratios for coronary heart disease per 65% lower Lp-PLA<sub>2</sub> activity were: 0.95 (0.88-1.03) with Val279Phe; 0.92 (0.74-1.16) with carriage of any loss-of-function variant; 1.01 (0.68-1.51) with Val379Ala; and 0.95 (0.89-1.02) with darapladib treatment.
|
27940953 |
2017 |
Coronary Arteriosclerosis
|
|
0.030 |
GeneticVariation
|
BEFREE |
Carriage of the V279F null allele within the gene encoding Lp-PLA₂ is protective from coronary artery disease in South Korean males.
|
21490708 |
2011 |
Coronary Arteriosclerosis
|
|
0.030 |
GeneticVariation
|
BEFREE |
Lipoprotein-associated phospholipase A2 gene V279F polymorphisms and coronary heart disease: a meta-analysis.
|
21107710 |
2011 |
Cerebrovascular accident
|
|
0.020 |
GeneticVariation
|
BEFREE |
V279F was not associated with major vascular events [7141 events; odds ratio (OR) = 0.98 per F variant, 95% confidence interval (CI) 0.90-1.06] or other vascular outcomes, including major coronary events (922 events; 0.96, 0.79-1.18) and stroke (5967 events; 1.00, 0.92-1.09).
|
27301456 |
2016 |
Asthma
|
|
0.020 |
GeneticVariation
|
BEFREE |
Individuals with V279F had lower risks of diabetes (7031 events; 0.91, 0.84-0.98) and asthma (182 events; 0.53, 0.28-0.98), but there was no association after adjustment for multiple testing.
|
27301456 |
2016 |
Asthma
|
|
0.020 |
GeneticVariation
|
BEFREE |
Although lack of PAFAH activity is thought to be a risk factor for asthma, there are conflicting findings concerning association between the Val279Phe variant and asthma.
|
11916011 |
2002 |