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dc.contributor.authorOchoa Ruiz, Eguzkine
dc.contributor.authorIriondo Orensanz, Mikel
dc.contributor.authorBielsa, Ana
dc.contributor.authorRuiz Irastorza, Guillermo
dc.contributor.authorEstomba Recalde, Miren Andone
dc.contributor.authorZubiaga Elordieta, Ana María
dc.date.accessioned2013-07-08T18:08:01Z
dc.date.available2013-07-08T18:08:01Z
dc.date.issued2013-07-03
dc.identifier.citationPLoS ONE 8(7): (2013) // e67897es
dc.identifier.issn1932-6203
dc.identifier.urihttp://hdl.handle.net/10810/10405
dc.description.abstractBackground : Thrombotic antiphospholipid syndrome is defined as a complex form of thrombophilia that is developed by a fraction of antiphospholipid antibody (aPLA) carriers. Little is known about the genetic risk factors involved in thrombosis development among aPLA carriers. Methods: To identify new loci conferring susceptibility to thrombotic antiphospholipid syndrome, a two-stage genotyping strategy was performed. In stage one, 19,000 CNV loci were genotyped in 14 thrombotic aPLA+ patients and 14 healthy controls by array-CGH. In stage two, significant CNV loci were fine-mapped in a larger cohort (85 thrombotic aPLA+, 100 non-thrombotic aPLA+ and 569 healthy controls). Results : Array-CGH and fine-mapping analysis led to the identification of 12q24.12 locus as a new susceptibility locus for thrombotic APS. Within this region, a TAC risk haplotype comprising one SNP in SH2B3 gene (rs3184504) and two SNPs in ATXN2 gene (rs10774625 and rs653178) exhibited the strongest association with thrombotic antiphospholipid syndrome (p-value = 5,9 × 10−4 OR 95% CI 1.84 (1.32–2.55)). Conclusion : The presence of a TAC risk haplotype in ATXN2-SH2B3 locus may contribute to increased thrombotic risk in aPLA carriers.es
dc.description.sponsorshipThis work was supported by the Basque Government (Etortek IE09-256, Saiotek S-PE10UN82 and Plan +Euskadi 09UE09+/57 to AMZ and Saiotek- PE08UN73 and Saiotek- PE09UN64 to AE) and by the UPV/EHU (UFI 11/20 to AMZ). Dr. Ruiz-Irastorza is supported by the Department of Education, Universities and Research of the Basque Government.es
dc.language.isoenges
dc.publisherPublic Library of Sciencees
dc.rightsinfo:eu-repo/semantics/openAccesses
dc.titleThrombotic Antiphospholipid Syndrome Shows Strong Haplotypic Association with SH2B3-ATXN2 Locuses
dc.typeinfo:eu-repo/semantics/articlees
dc.rights.holder© 2013 Ochoa et al. 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.es
dc.relation.publisherversionhttp://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0067897es
dc.identifier.doi10.1371/journal.pone.0067897
dc.departamentoesMedicinaes_ES
dc.departamentoesGenética, antropología física y fisiología animales_ES
dc.departamentoeuMedikuntzaes_ES
dc.departamentoeuGenetika,antropologia fisikoa eta animalien fisiologiaes_ES
dc.subject.categoriaAGRICULTURAL AND BIOLOGICAL SCIENCES
dc.subject.categoriaBIOCHEMISTRY AND MOLECULAR BIOLOGY
dc.subject.categoriaMEDICINE


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