Pulmonary embolism and 529 human blood metabolites: genetic correlation and two-sample Mendelian randomization study.

{"sci_version": "1.2", "schema": "https://corpus.bntrg.co.uk/sci/1.0/sci.schema.json", "id": "pmid:36038828", "kind": "science-record", "revision": 3, "content_hash": "sha256:dc8db313beec2937fe41f9b64831e6ee3b452b292cb0f5c10839c32b2cf526a8", "created_at": "2026-11-01T18:15:13Z", "updated_at": "2026-11-01T21:28:46Z", "generator": {"name": "corpus-assay-engine", "run_id": "reading-sci-2026-11-01"}, "paper": {"state": "complete", "title": "Pulmonary embolism and 529 human blood metabolites: genetic correlation and two-sample Mendelian randomization study.", "doi": "10.1186/s12863-022-01082-6", "pmid": "36038828", "authors": ["Ruoyang Feng", "Mengnan Lu", "Jiawen Xu", "Feng Zhang", "Mingyi Yang", "Pan Luo", "Ke Xu", "Peng Xu"], "journal": "BMC genomic data", "year": 2022, "abstract": "BACKGROUND: The incidence of pulmonary embolism complications in the literature ranges from 10 to 50%, with a 0.5-10% risk of fatal pulmonary embolism. However, the biological cause of pulmonary embolism is unknown.\nMETHODS: This study used data from the Genome-Wide Association Study (GWAS) of Pulmonary Embolism and Human Blood Metabolites from the UK Biobank, and the data from subjects of European ancestry were analyzed. We explored the relationship between pulmonary embolism and blood metabolites in three ways. We first analyzed the genetic correlation between pulmonary embolism and human blood metabolites using the linkage disequilibrium score regression (LDSC) and then analyzed the causal relationship between pulmonary embolism and meaningful blood metabolites obtained from the LDSC, a procedure for which we used Mendelian randomization analysis. Finally, we obtained transcriptome sequencing data for patients with a pulmonary embolism from the GEO database, analyzed differentially expressed genes (DEGs) in patients with pulmonary embolism versus healthy populations, and compared the DEGs with the resulting blood metabolite genes to further validate the relationship between pulmonary embolism and blood metabolites.\nRESULT: We found six human blood metabolites genetically associated with pulmonary embolism, stearic acid glycerol phosphate ethanolamine (correlation coefficient = 0.2582, P = 0.0493), hydroxytryptophan (correlation coefficient = 0.2894, P = 0.0435), and N1-methyladenosine (correlation coefficient = 0.0439, P = 0.3728), and a significant causal relationship was discovered between hydroxytryptophan and pulmonary embolism. After screening microarray data from the GEO database, we performed differential gene analysis on the GSE19151 dataset and screened a total of 22,216 genes with P values less than 0.05, including 17,361 upregulated genes and 4854 downregulated genes. By comparing the resulting differentially expressed genes with six genes encoding blood metabolites, LIPC and NAT2 were found to be differentially expressed in association with pulmonary embolism.", "claims": [{"id": "claim-method", "statement": "We first analyzed the genetic correlation between pulmonary embolism and human blood metabolites using the linkage disequilibrium score regression (LDSC) and then analyzed the causal relationship between pulmonary embolism and meaningful blood metabolites obtained from the LDSC, a procedure for which we used Mendelian randomization analysis.", "kind": "methodological", "target": null, "evidence": [{"asset": "source:pmid:36038828", "locator": "sections[0] \"Abstract\" paragraph 2", "quote": "We first analyzed the genetic correlation between pulmonary embolism and human blood metabolites using the linkage disequilibrium score regression (LDSC) and then analyzed the causal relationship between pulmonary embolism and meaningful blood metabolites obtained from the LDSC, a procedure for which we used Mendelian randomization analysis."}], "state": "complete"}, {"id": "claim-data-access", "statement": "The datasets analyzed during the current study are available from the Gene Expression Omnibus database (https://www.ncbi.nlm.nih.gov/gds) accession number: GSE19151; the UK biobank (http://geneatlas.roslin.ed.ac.uk/) fields: 20002.; The datasets used and/or analyzed in the remaining studies are available upon reasonable request to the corresponding authors.", "kind": "methodological", "target": null, "evidence": [{"asset": "source:pmid:36038828", "locator": "sections[18] \"Availability of data and materials\" paragraph 2", "quote": "The datasets analyzed during the current study are available from the Gene Expression Omnibus database (https://www.ncbi.nlm.nih.gov/gds) accession number: GSE19151; the UK biobank (http://geneatlas.roslin.ed.ac.uk/) fields: 20002.; The datasets used and/or analyzed in the remaining studies are available upon reasonable request to the corresponding authors."}], "state": "complete"}, {"id": "claim-target-result", "statement": "We found six human blood metabolites genetically associated with pulmonary embolism, stearic acid glycerol phosphate ethanolamine (correlation coefficient = 0.2582, P = 0.0493), hydroxytryptophan (correlation coefficient = 0.2894, P = 0.0435), and N1-methyladenosine (correlation coefficient = 0.0439, P = 0.3728), and a significant causal relationship was discovered between hydroxytryptophan and pulmonary embolism.", "kind": "qualitative", "target": null, "evidence": [{"asset": "source:pmid:36038828", "locator": "sections[0] \"Abstract\" paragraph 3", "quote": "We found six human blood metabolites genetically associated with pulmonary embolism, stearic acid glycerol phosphate ethanolamine (correlation coefficient = 0.2582, P = 0.0493), hydroxytryptophan (correlation coefficient = 0.2894, P = 0.0435), and N1-methyladenosine (correlation coefficient = 0.0439, P = 0.3728), and a significant causal relationship was discovered between hydroxytryptophan and pulmonary embolism."}], "state": "complete"}], "gaps": []}, "experiment": {"state": "complete", "objective": "We found six human blood metabolites genetically associated with pulmonary embolism, stearic acid glycerol phosphate ethanolamine (correlation coefficient = 0.2582, P = 0.0493), hydroxytryptophan (correlation coefficient = 0.2894, P = 0.0435), and N1-methyladenosine (correlation coefficient = 0.0439, P = 0.3728), and a significant causal relationship was discovered between hydroxytryptophan and pulmonary embolism.", "steps": [{"id": "read_published_estimate", "order": 1, "name": "Read the published estimate from the source", "kind": "other", "state": "complete", "blocked_on": null, "description": "The claim, method and evidence span published with the source article.", "duration_hours": null, "parameters": {}, "inputs": ["source:pmid:36038828"], "outputs": ["the published estimate and its evidence"], "instruments": [], "reagents": []}, {"id": "obtain_source_data", "order": 2, "name": "Obtain the source data from the named repository", "kind": "data-preparation", "state": "complete", "blocked_on": null, "description": "The GEO series accession resolves and its sample accessions are listed. 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