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dc.contributor.authorLindström, Sara
dc.contributor.authorBrody, Jennifer A.
dc.contributor.authorTurman, Constance
dc.contributor.authorGermain, Marine
dc.contributor.authorBartz, Traci M.
dc.contributor.authorSmith, Erin N.
dc.contributor.authorChen, Ming-Huei
dc.contributor.authorPuurunen, Marja
dc.contributor.authorChasman, Daniel
dc.contributor.authorHassler, Jeffrey
dc.contributor.authorPankratz, Nathan
dc.contributor.authorBasu, Saonli
dc.contributor.authorGuan, Weihua
dc.contributor.authorGyörgy, Beata
dc.contributor.authorIbrahim, Manal
dc.contributor.authorEmpana, Jean-Philippe
dc.contributor.authorOlaso, Robert
dc.contributor.authorJackson, Rebecca
dc.contributor.authorBrækkan, Sigrid Kufaas
dc.contributor.authorMcKnight, Barbara
dc.contributor.authorDeleuze, Jean-François
dc.contributor.authorO'Donnell, Christopher J.
dc.contributor.authorJouven, Xavier
dc.contributor.authorFrazer, Kelly A.
dc.contributor.authorPsaty, Bruce M.
dc.contributor.authorWiggins, Kerri L.
dc.contributor.authorTaylor, Kent
dc.contributor.authorReiner, Alexander P.
dc.contributor.authorHeckbert, Susan R.
dc.contributor.authorKooperberg, Charles
dc.contributor.authorRidker, Paul
dc.contributor.authorHansen, John-Bjarne
dc.contributor.authorTang, Weihong
dc.contributor.authorJohnson, Andrew D.
dc.contributor.authorMorange, Pierre-Emmanuel
dc.contributor.authorTrégouët, David A.
dc.contributor.authorKraft, Peter
dc.contributor.authorSmith, Nicholas L.
dc.contributor.authorKabrhel, Christopher
dc.date.accessioned2020-01-15T21:22:15Z
dc.date.available2020-01-15T21:22:15Z
dc.date.issued2019-01-19
dc.description.abstractAlthough recent Genome‐Wide Association Studies have identified novel associations for common variants, there has been no comprehensive exome‐wide search for low‐frequency variants that affect the risk of venous thromboembolism (VTE). We conducted a meta‐analysis of 11 studies comprising 8,332 cases and 16,087 controls of European ancestry and 382 cases and 1,476 controls of African American ancestry genotyped with the Illumina HumanExome BeadChip. We used the seqMeta package in R to conduct single variant and gene‐based rare variant tests. In the single variant analysis, we limited our analysis to the 64,794 variants with at least 40 minor alleles across studies (minor allele frequency [MAF] ~0.08%). We confirmed associations with previously identified VTE loci, including <i>ABO, F5, F11</i>, and <i>FGA</i>. After adjusting for multiple testing, we observed no novel significant findings in single variant or gene‐based analysis. Given our sample size, we had greater than 80% power to detect minimum odds ratios greater than 1.5 and 1.8 for a single variant with MAF of 0.01 and 0.005, respectively. Larger studies and sequence data may be needed to identify novel low‐frequency and rare variants associated with VTE risk.en_US
dc.descriptionThis is the peer reviewed version of the following article: Lindström, S., Brody, J.A., Turman, C., Germain, M., Bartz, T.M., Smith, E.N., ... Kabrhel, C. (2019). A large-scale exome array analysis of venous thromboembolism. <i>Genetic Epidemiology, 43</i>(4), 449-457, which has been published in final form at <a href=https://doi.org/10.1002/gepi.22187>https://doi.org/10.1002/gepi.22187</a>. This article may be used for non-commercial purposes in accordance with Wiley <a href=https://authorservices.wiley.com/author-resources/Journal-Authors/licensing/self-archiving.html>Terms and Conditions for Use of Self-Archived Versions</a>.en_US
dc.identifier.citationLindström, S., Brody, J.A., Turman, C., Germain, M., Bartz, T.M., Smith, E.N., ... Kabrhel, C. (2019). A large-scale exome array analysis of venous thromboembolism. <i>Genetic Epidemiology, 43</i>(4), 449-457. https://doi.org/10.1002/gepi.22187en_US
dc.identifier.cristinIDFRIDAID 1690542
dc.identifier.doi10.1002/gepi.22187
dc.identifier.issn0741-0395
dc.identifier.issn1098-2272
dc.identifier.urihttps://hdl.handle.net/10037/17110
dc.language.isoengen_US
dc.publisherWileyen_US
dc.relation.journalGenetic Epidemiology
dc.rights.accessRightsopenAccessen_US
dc.rights.holder© 2019 Wiley Periodicals, Inc.en_US
dc.subjectVDP::Medical disciplines: 700::Clinical medical disciplines: 750en_US
dc.subjectVDP::Medisinske Fag: 700::Klinisk medisinske fag: 750en_US
dc.titleA large-scale exome array analysis of venous thromboembolismen_US
dc.type.versionacceptedVersionen_US
dc.typeJournal articleen_US
dc.typeTidsskriftartikkelen_US
dc.typePeer revieweden_US


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