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Genetic variants of the extra-large stimulatory Gs protein alpha-subunit and risk of thrombotic and haemorrhagic disorders

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dc.contributor.authorGonzález-Conejero Hilla, Rocío
dc.contributor.authorCorral de la Calle, Javier
dc.contributor.authorGuerrero López, José Antonio
dc.contributor.authorIniesta Valera, Juan Antonio
dc.contributor.authorRivera Pozo, José
dc.contributor.authorArriba de la Fuente, Felipe de
dc.contributor.authorVicente García, Vicente
dc.contributor.departmentMedicina Interna
dc.date.accessioned2026-02-28T09:18:48Z
dc.date.available2026-02-28T09:18:48Z
dc.date.copyright© 2004 Blackwell Publishing Ltd
dc.date.issued2004-04-27
dc.description.abstractA polymorphism of the gene encoding the extra-large stimulatory G-protein a-subunit (XLas), originally identified in three patients with a bleeding tendency, involved a 36-bp insertion and two missense changes. A paternallyinherited insertion displayed a moderate platelet Gsa over-expression, which lead to platelet hypo-reactivity. These data prompted us to investigate the genetic, functional and clinical relevance of this polymorphism in the Mediterranean population. We included 414 healthy subjects and three case/ control studies: 263 consecutive patients with a first episode of primary intracerebral haemorrhage, 195 patients with deep venous thrombosis, and 104 patients with cerebrovascular disease. Controls were selected by approximating criteria to match selected risk factors to patients. Moreover, we performed studies of platelet function. We developed a simple method to determine the methylated allele, by digestion of genomic DNA with Sma I before polymerase chain reaction amplification. We identified two new rare variants, resulting from the loss of repeat units 7 and 5. The AB genotype was present in 3Æ6% of healthy population and the prevalence of the B allele was similar among cases and controls. Accordingly, the non-methylated B allele did not modify either the expression of platelet Gsa or the platelet response to Gs-agonists. Thus, our study suggests a minor functional role of XLas polymorphism in thrombotic or in haemorrhagic disorders.
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dc.format.extent8
dc.identifier.citationBritish Journal of Haematology, 125, 621–628
dc.identifier.doihttps://doi.org/10.1111/j.1365-2141.2004.04947.x
dc.identifier.eissn1365-2141
dc.identifier.issn0007-1048
dc.identifier.urihttp://hdl.handle.net/10201/216361
dc.languageeng
dc.publisherWiley
dc.relationThe study was supported by grants FIS 00/0328 and SAF 2003-00840
dc.relation.publisherversionhttps://onlinelibrary.wiley.com/doi/10.1111/j.1365-2141.2004.04947.x
dc.rights.accessRightsinfo:eu-repo/semantics/restrictedAccess
dc.subjectBleeding disorders
dc.subjectGenetic imprinting
dc.subjectGenetics of thrombosis and haemostasis
dc.subjectMolecular analysis
dc.subjectPlatelet function
dc.subject.odsObjetivo 3: Salud
dc.titleGenetic variants of the extra-large stimulatory Gs protein alpha-subunit and risk of thrombotic and haemorrhagic disorders
dc.typeinfo:eu-repo/semantics/article
dc.type.versioninfo:eu-repo/semantics/publishedVersión
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