rs76863441, PLA2G7

N. diseases: 25
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
CUI: C0010068
Disease: 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
CUI: C0010068
Disease: 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
CUI: C0010068
Disease: 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
CUI: C0010068
Disease: 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
CUI: C0010068
Disease: 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
CUI: C0010068
Disease: 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
CUI: C0010068
Disease: 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
CUI: C0948089
Disease: 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
CUI: C1956346
Disease: 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
CUI: C1956346
Disease: 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
CUI: C1956346
Disease: 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
CUI: C1956346
Disease: 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
CUI: C0010054
Disease: 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
CUI: C0010054
Disease: 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
CUI: C0010054
Disease: Coronary Arteriosclerosis
0.030 GeneticVariation BEFREE Lipoprotein-associated phospholipase A2 gene V279F polymorphisms and coronary heart disease: a meta-analysis. 21107710 2011
Cerebrovascular accident
CUI: C0038454
Disease: 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
CUI: C0004096
Disease: 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
CUI: C0004096
Disease: 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