dc.contributor.author | Ochoa Ruiz, Eguzkine | |
dc.contributor.author | Iriondo Orensanz, Mikel | |
dc.contributor.author | Bielsa, Ana | |
dc.contributor.author | Ruiz Irastorza, Guillermo | |
dc.contributor.author | Estomba Recalde, Miren Andone | |
dc.contributor.author | Zubiaga Elordieta, Ana María | |
dc.date.accessioned | 2013-07-08T18:08:01Z | |
dc.date.available | 2013-07-08T18:08:01Z | |
dc.date.issued | 2013-07-03 | |
dc.identifier.citation | PLoS ONE 8(7): (2013) // e67897 | es |
dc.identifier.issn | 1932-6203 | |
dc.identifier.uri | http://hdl.handle.net/10810/10405 | |
dc.description.abstract | Background :
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.sponsorship | This 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.iso | eng | es |
dc.publisher | Public Library of Science | es |
dc.rights | info:eu-repo/semantics/openAccess | es |
dc.title | Thrombotic Antiphospholipid Syndrome Shows Strong Haplotypic Association with SH2B3-ATXN2 Locus | es |
dc.type | info:eu-repo/semantics/article | es |
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.publisherversion | http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0067897 | es |
dc.identifier.doi | 10.1371/journal.pone.0067897 | |
dc.departamentoes | Medicina | es_ES |
dc.departamentoes | Genética, antropología física y fisiología animal | es_ES |
dc.departamentoeu | Medikuntza | es_ES |
dc.departamentoeu | Genetika,antropologia fisikoa eta animalien fisiologia | es_ES |
dc.subject.categoria | AGRICULTURAL AND BIOLOGICAL SCIENCES | |
dc.subject.categoria | BIOCHEMISTRY AND MOLECULAR BIOLOGY | |
dc.subject.categoria | MEDICINE | |