Thrombotic antiphospholipid syndrome shows strong haplotypic association with SH2B3-ATXN2 locus.

<h4>Background</h4>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.<h4...

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Autores principales:	Eguzkine Ochoa, Mikel Iriondo, Ana Bielsa, Guillermo Ruiz-Irastorza, Andone Estonba, Ana M Zubiaga
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2013
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/7047db7f771243b6b5c12f3b0cbfff4e
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spelling	oai:doaj.org-article:7047db7f771243b6b5c12f3b0cbfff4e2021-11-18T07:38:47ZThrombotic antiphospholipid syndrome shows strong haplotypic association with SH2B3-ATXN2 locus.1932-620310.1371/journal.pone.0067897https://doaj.org/article/7047db7f771243b6b5c12f3b0cbfff4e2013-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23844121/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203<h4>Background</h4>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.<h4>Methods</h4>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).<h4>Results</h4>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)).<h4>Conclusion</h4>The presence of a TAC risk haplotype in ATXN2-SH2B3 locus may contribute to increased thrombotic risk in aPLA carriers.Eguzkine OchoaMikel IriondoAna BielsaGuillermo Ruiz-IrastorzaAndone EstonbaAna M ZubiagaPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 8, Iss 7, p e67897 (2013)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Eguzkine Ochoa Mikel Iriondo Ana Bielsa Guillermo Ruiz-Irastorza Andone Estonba Ana M Zubiaga Thrombotic antiphospholipid syndrome shows strong haplotypic association with SH2B3-ATXN2 locus.
description	<h4>Background</h4>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.<h4>Methods</h4>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).<h4>Results</h4>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)).<h4>Conclusion</h4>The presence of a TAC risk haplotype in ATXN2-SH2B3 locus may contribute to increased thrombotic risk in aPLA carriers.
format	article
author	Eguzkine Ochoa Mikel Iriondo Ana Bielsa Guillermo Ruiz-Irastorza Andone Estonba Ana M Zubiaga
author_facet	Eguzkine Ochoa Mikel Iriondo Ana Bielsa Guillermo Ruiz-Irastorza Andone Estonba Ana M Zubiaga
author_sort	Eguzkine Ochoa
title	Thrombotic antiphospholipid syndrome shows strong haplotypic association with SH2B3-ATXN2 locus.
title_short	Thrombotic antiphospholipid syndrome shows strong haplotypic association with SH2B3-ATXN2 locus.
title_full	Thrombotic antiphospholipid syndrome shows strong haplotypic association with SH2B3-ATXN2 locus.
title_fullStr	Thrombotic antiphospholipid syndrome shows strong haplotypic association with SH2B3-ATXN2 locus.
title_full_unstemmed	Thrombotic antiphospholipid syndrome shows strong haplotypic association with SH2B3-ATXN2 locus.
title_sort	thrombotic antiphospholipid syndrome shows strong haplotypic association with sh2b3-atxn2 locus.
publisher	Public Library of Science (PLoS)
publishDate	2013
url	https://doaj.org/article/7047db7f771243b6b5c12f3b0cbfff4e
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Thrombotic antiphospholipid syndrome shows strong haplotypic association with SH2B3-ATXN2 locus.

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