ArticleThrombosis and haemostasis2017
Identification of unique venous thromboembolism-susceptibility variants in African-Americans.
Article in Thrombosis and haemostasis, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03394859 (Electronic Medical Records and Genomics), which is not on this map. Cited by 20 papers, 3 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Electronic Medical Records and Genomics (eMERGE) Phase III
Who cites it
20 citing papers in PubMed, 3 syntheses or guidelines pooled it, 36 citations in OpenAlex.
- GP6 polymorphisms and venous thromboembolism: a Chinese case-control study with cross-population assessment.BMC cardiovascular disorders · 2026Pooled it
- Genome-wide meta-analysis identifies 93 risk loci and enables risk prediction equivalent to monogenic forms of venous thromboembolism.Nature genetics · 2023Pooled it
- Can antiepileptic efficacy and epilepsy variables be studied from electronic health records? A review of current approaches.Seizure · 2021Pooled it
- Sickle cell disease: managing thromboembolism.Hematology. American Society of Hematology. Education Program · 2025Review
- Multipopulation GWAS for venous thromboembolism identifies novel loci followed by experimental validation in zebrafish.Blood advances · 2025Article
- Type 3 IP3 receptor: Its structure, functions, and related disease implications.Channels (Austin, Tex.) · 2023Review
- Article
- Opportunities and challenges for biomarker discovery using electronic health record data.Trends in molecular medicine · 2023Review
- LINC02015 modulates the cell proliferation and apoptosis of aortic vascular smooth muscle cells by transcriptional regulation and protein interaction network.Cell death discovery · 2023Article
- Genomewide Association Study Identifies Copy Number Variants Associated With Warfarin Dose Response and Risk of Venous Thromboembolism in African Americans.Clinical pharmacology and therapeutics · 2023Article
- Placental Gene Transcript Proportions are Altered in the Presence ofFrontiers in genetics · 2022Article
- Identification of four hub genes in venous thromboembolism via weighted gene coexpression network analysis.BMC cardiovascular disorders · 2021Article
- Integrative genomic analysis in African American children with asthma finds three novel loci associated with lung function.Genetic epidemiology · 2021Article
- The molecular basis for the prothrombotic state in sickle cell disease.Haematologica · 2020Article
- Article
- Identifying mutation-driven changes in gene functionality that lead to venous thromboembolism.Human mutation · 2019Article
- Association ofFrontiers in genetics · 2019Article
- The pharmacoepigenomics informatics pipeline defines a pathway of novel and known warfarin pharmacogenomics variants.Pharmacogenomics · 2018Article
- Prioritizing diversity in human genomics research.Nature reviews. Genetics · 2018Review
- Identification of Genetic Interaction with Risk Factors Using a Time-To-Event Model.International journal of environmental research and public health · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors at 3 institutions in 1 country.
Funding
Abstract
To identify novel single nucleotide polymorphisms (SNPs) associated with venous thromboembolism (VTE) in African-Americans (AAs), we performed a genome-wide association study (GWAS) of VTE in AAs using the Electronic Medical Records and Genomics (eMERGE) Network, comprised of seven sites each with DNA biobanks (total ~39,200 unique DNA samples) with genome-wide SNP data (imputed to 1000 Genomes Project cosmopolitan reference panel) and linked to electronic health records (EHRs). Using a validated EHR-driven phenotype extraction algorithm, we identified VTE cases and controls and tested for an association between each SNP and VTE using unconditional logistic regression, adjusted for age, sex, stroke, site-platform combination and sickle cell risk genotype. Among 393 AA VTE cases and 4,941 AA controls, three intragenic SNPs reached genome-wide significance: LEMD3 rs138916004 (OR=3.2; p=1.3E-08), LY86 rs3804476 (OR=1.8; p=2E-08) and LOC100130298 rs142143628 (OR=4.5; p=4.4E-08); all three SNPs validated using internal cross-validation, parametric bootstrap and meta-analysis methods. LEMD3 rs138916004 and LOC100130298 rs142143628 are only present in Africans (1000G data). LEMD3 showed a significant differential expression in both NCBI Gene Expression Omnibus (GEO) and the Mayo Clinic gene expression data, LOC100130298 showed a significant differential expression only in the GEO expression data, and LY86 showed a significant differential expression only in the Mayo expression data. LEMD3 encodes for an antagonist of TGF-β-induced cell proliferation arrest. LY86 encodes for MD-1 which down-regulates the pro-inflammatory response to lipopolysaccharide; LY86 variation was previously associated with VTE in white women; LOC100130298 is a non-coding RNA gene with unknown regulatory activity in gene expression and epigenetics.
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Registered trials
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