ArticleThe pharmacogenomics journal2012
Sequencing of Lp-PLA2-encoding PLA2G7 gene in 2000 Europeans reveals several rare loss-of-function mutations.
Article in The pharmacogenomics journal, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.
- Genetic invalidation of Lp-PLAEuropean journal of preventive cardiology · 2017Pooled it
- Biological Properties and Clinical Significance of Lipoprotein-Associated Phospholipase ACardiovascular therapeutics · 2022Review
- The population genomics of adaptive loss of function.Heredity · 2021Review
- Lipoprotein-associated phospholipase A2: The story continues.Medicinal research reviews · 2020Review
- Identifying individual risk rare variants using protein structure guided local tests (POINT).PLoS computational biology · 2019Article
- Reexamining Dis/Similarity-Based Tests for Rare-Variant Association with Case-Control Samples.Genetics · 2018Article
- On the substructure controls in rare variant analysis: Principal components or variance components?Genetic epidemiology · 2018Article
- Rare Variants Association Analysis in Large-Scale Sequencing Studies at the Single Locus Level.PLoS computational biology · 2016Article
- Meta-Analysis of Rare Variant Association Tests in Multiethnic Populations.Genetic epidemiology · 2016Article
- Assessing gene-environment interactions for common and rare variants with binary traits using gene-trait similarity regression.Genetics · 2015Article
- Complete effect-profile assessment in association studies with multiple genetic and multiple environmental factors.Genetic epidemiology · 2015Article
- STABILITY and SOLID-TIMI 52: Lipoprotein associated phospholipase A2 (Lp-PLA2) as a biomarker or risk factor for cardiovascular diseases.Global cardiology science & practice · 2015Article
- Empirical power of very rare variants for common traits and disease: results from sanger sequencing 1998 individuals.European journal of human genetics : EJHG · 2013Article
- Modulation of oxidative stress, inflammation, and atherosclerosis by lipoprotein-associated phospholipase A2.Journal of lipid research · 2012Review
- The empirical power of rare variant association methods: results from sanger sequencing in 1,998 individuals.PLoS genetics · 2012Article
- Article
- Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina.American journal of human genetics · 2011Article
- Phospholipase A2 enzymes: physical structure, biological function, disease implication, chemical inhibition, and therapeutic intervention.Chemical reviews · 2011Review
- Detecting low frequent loss-of-function alleles in genome wide association studies with red hair color as example.PloS one · 2011Article
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Elevated plasma levels of lipoprotein-associated phospholipase A(2) (Lp-PLA2) activity have been shown to be associated with increased risk of coronary heart disease and an inhibitor of this enzyme is under development for the treatment of that condition. A Val279Phe null allele in this gene, that may influence patient eligibility for treatment, is relatively common in East Asians but has not been observed in Europeans. We investigated the existence and functional effects of low frequency alleles in a Western European population by re-sequencing the exons of PLA2G7 in 2000 samples. In all, 19 non-synonymous single-nucleotide polymorphisms (nsSNPs) were found, 14 in fewer than four subjects (minor allele frequency <0.1%). Lp-PLA2 activity was significantly lower in rare nsSNP carriers compared with non-carriers (167.8±63.2 vs 204.6±41.8, P=0.01) and seven variants had enzyme activities consistent with a null allele. The cumulative frequency of these null alleles was 0.25%, so <1 in 10,000 Europeans would be expected to be homozygous, and thus not potentially benefit from treatment with an Lp-PLA2 inhibitor.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.