Welcome to the UPF Digital Repository

High trans-ethnic replicability of GWAS results implies common causal variants

Show simple item record

dc.contributor.author Marigorta, Urko M.
dc.contributor.author Navarro i Cuartiellas, Arcadi, 1969-
dc.date.accessioned 2015-04-20T07:05:24Z
dc.date.available 2015-04-20T07:05:24Z
dc.date.issued 2013
dc.identifier.citation Marigorta UM, Navarro A. High trans-ethnic replicability of GWAS results implies common causal variants. PLoS Genetics. 2013;9(6):e1003566. DOI: 10.1371/journal.pgen.1003566
dc.identifier.issn 1553-7390
dc.identifier.uri http://hdl.handle.net/10230/23442
dc.description.abstract Genome-wide association studies (GWAS) have detected many disease associations. However, the reported variants tend to explain small fractions of risk, and there are doubts about issues such as the portability of findings over different ethnic groups or the relative roles of rare versus common variants in the genetic architecture of complex disease. Studying the degree of sharing of disease-associated variants across populations can help in solving these issues. We present a comprehensive survey of GWAS replicability across 28 diseases. Most loci and SNPs discovered in Europeans for these conditions have been extensively replicated using peoples of European and East Asian ancestry, while the replication with individuals of African ancestry is much less common. We found a strong and significant correlation of Odds Ratios across Europeans and East Asians, indicating that underlying causal variants are common and shared between the two ancestries. Moreover, SNPs that failed to replicate in East Asians map into genomic regions where Linkage Disequilibrium patterns differ significantly between populations. Finally, we observed that GWAS with larger sample sizes have detected variants with weaker effects rather than with lower frequencies. Our results indicate that most GWAS results are due to common variants. In addition, the sharing of disease alleles and the high correlation in their effect sizes suggest that most of the underlying causal variants are shared between Europeans and East Asians and that they tend to map close to the associated marker SNPs.
dc.description.sponsorship This work was supported by a PhD fellowship from the UPF to UMM and grants to AN from the Spanish Ministerio de Ciencia e Innovación (BFU2006-15413-C02-01, BFU2009-13409-C02-02; BFU2012-38236) and FEDER. The Spanish National Institute for Bioinformatics (www.inab.org) provided bioinformatics support. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript
dc.format.mimetype application/pdf
dc.language.iso eng
dc.publisher Public Library of Science (PLoS)
dc.relation.ispartof PLoS Genetics. 2013;9(6):e1003566
dc.rights © 2013 Marigorta, Navarro. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited
dc.subject.other Genoma humà
dc.subject.other Gens humans Mapatge
dc.title High trans-ethnic replicability of GWAS results implies common causal variants
dc.type info:eu-repo/semantics/article
dc.identifier.doi http://dx.doi.org/10.1371/journal.pgen.1003566
dc.relation.projectID info:eu-repo/grantAgreement/ES/2PN/BFU2006-15413
dc.relation.projectID info:eu-repo/grantAgreement/ES/3PN/ BFU2009-13409
dc.relation.projectID info:eu-repo/grantAgreement/ES/3PN/BFU2012-38236
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/publishedVersion


This item appears in the following Collection(s)

Show simple item record

Search DSpace

Advanced Search


My Account


In collaboration with Compliant to Partaking