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Most commonly PE constitutes a complication of VTE\u2019s other clinical presentation deep vein thrombosis (DVT). The majority of studies concerning risk factors do not distinguish between PE and DVT. The risk factors are often estimated to be alike, but the prevalence and the risk associated with the major genetic factor Factor V Leiden differ between the two disease states. We have investigated the association of 22 SNPs with PE in 185 PE case and 375 healthy control subjects. At <jats:italic>p<\/jats:italic>\u2009=\u20090.05, eight SNPs presented with nominally significant evidence of association (EOA), although no significantly different genotype distributions remained between cases and controls after Bonferroni correction. Three of these variants (rs1800790, rs3813948, rs6025) showed EOA in the main analysis, and five variants (rs169713, rs1801131, rs4524, rs5985 and rs8176592) demonstrated EOAs in subgroups. Genomic variation modulating Factor V, Factor XIII, Beta fibrinogen (FGB), TFPI or HIVEP1 should be worth to be followed in subsequent studies. The findings of this study support the view that PE represents a complex disease with many factors contributing relatively small effects. Larger sample sizes will be required to reliably detect these small effects.<\/jats:p>","DOI":"10.1007\/s00414-020-02441-7","type":"journal-article","created":{"date-parts":[[2020,10,31]],"date-time":"2020-10-31T00:07:02Z","timestamp":1604102822000},"page":"143-151","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Genetic association study of fatal pulmonary embolism"],"prefix":"10.1007","volume":"135","author":[{"given":"Lisa","family":"Mei\u00dfner","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Sch\u00fcrmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thilo","family":"D\u00f6rk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lars","family":"Hagemeier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8036-571X","authenticated-orcid":false,"given":"Michael","family":"Klintschar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,10,30]]},"reference":[{"key":"2441_CR1","doi-asserted-by":"publisher","first-page":"I4","DOI":"10.1161\/01.CIR.0000078468.11849.66","volume":"107","author":"RH White","year":"2003","unstructured":"White RH (2003) The epidemiology of venous thromboembolism. 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A full list of contributing groups can be found at .","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"The authors would also like to thank the Genome Aggregation Database (gnomAD) and the groups that provided exome and genome variant data to this resource. A full list of contributing groups can be found at .","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}}]}}