ArticleHaematologica2011
Novel loci involved in platelet function and platelet count identified by a genome-wide study performed in children.
Article in Haematologica, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.
- Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals.American journal of human genetics · 2016Pooled it
- New single nucleotide polymorphisms associated with differences in platelets reactivity in patients with type 2 diabetes treated with acetylsalicylic acid: genome-wide association approach and pooled DNA strategy.Journal of thrombosis and thrombolysis · 2013Trial
- Downregulation of LPAR1 Promotes Invasive Behavior in Papillary Thyroid Carcinoma Cells.Cancer informatics · 2024Article
- CRISPR-edited megakaryocytes for rapid screening of platelet gene functions.Blood advances · 2021Article
- Estimation of non-null SNP effect size distributions enables the detection of enriched genes underlying complex traits.PLoS genetics · 2020Article
- Mosaic chromosome Y loss is associated with alterations in blood cell counts in UK Biobank men.Scientific reports · 2020Article
- LPAR1, Correlated With Immune Infiltrates, Is a Potential Prognostic Biomarker in Prostate Cancer.Frontiers in oncology · 2020Article
- Population Structure of UK Biobank and Ancient Eurasians Reveals Adaptation at Genes Influencing Blood Pressure.American journal of human genetics · 2016Article
- Evaluation of Novel Platelet Polymorphisms in Stroke. Dichotomic Effect of rs5443 in GNB3.Journal of clinical neurology (Seoul, Korea) · 2015Article
- The effect of butanolides from Cinnamomum tenuifolium on platelet aggregation.Molecules (Basel, Switzerland) · 2013Article
- Article
- The genetics of common variation affecting platelet development, function and pharmaceutical targeting.Journal of thrombosis and haemostasis : JTH · 2011Review
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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
backgroundGenome-wide association studies are currently identifying new loci with potential roles in thrombosis and hemostasis: these loci include novel polymorphisms associated with platelet function traits and count. However, no genome-wide study performed on children has been reported to date, in spite of the potential that these subjects have in genetic studies, when compared to adults, given the minimal degree of confounders, i.e., acquired and environmental factors, such as smoking, physical activity, diet, and drug or hormone intake, which are particularly important in platelet function. DESIGN AND
methodsTo identify new genetic variants involved in platelet reactivity and count, we performed a genome-wide association study on 75 children (8.5±1.8 years) using the Illumina Sentrix Human CNV370-Quad BeadChip containing 320,610 single nucleotide polymorphisms. Functional analyses included assessment of platelet aggregation and granule secretion triggered by different agonists (arachidonic acid, collagen, epinephrine, ADP), as well as platelet count. Associations were selected based on statistical significance and physiological relevance for a subsequent replication study in a similar sample of 286 children.
resultsWe confirmed previously established associations with plasma levels of factors XII, VII and VIII as well as associations with platelet responses to ADP. Additionally, we identified 82 associations with platelet reactivity and count with a P value less than 10(-5). From the associations selected for further replication, we validated two single nucleotide polymorphisms with mildly increased platelet reactivity (rs4366150 and rs1787566) on the LPAR1 and MYO5B genes, encoding lisophosphatidic acid receptor-1 and myosin VB, respectively; and rs1937970, located on the NRG3 gene coding neuroregulin-3, associated with platelet count.
conclusionsOur genome-wide association study performed in children, followed by a validation analysis, led us to the identification of new genes potentially relevant in platelet function and biogenesis.
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