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dc.contributor.authorGarcía Martín, Elena
dc.contributor.authorJiménez Jiménez, Félix Javier
dc.contributor.authorAlonso Navarro, Hortensia
dc.contributor.authorMartínez, Carmen
dc.contributor.authorZurdo, Martín
dc.contributor.authorTurpín Fenoll, Laura
dc.contributor.authorMillán Pascual, Jorge
dc.contributor.authorAdeva Bartolomé, Teresa
dc.contributor.authorCubo Delgado, Esther 
dc.contributor.authorNavacerrada, Francisco
dc.contributor.authorRojo Sebastián, Ana
dc.contributor.authorRubio, Lluisa
dc.contributor.authorOrtega Cubero, Sara
dc.contributor.authorPastor, Pau
dc.contributor.authorCalleja, Marisol
dc.contributor.authorPlaza Nieto, José Francisco
dc.contributor.authorPilo de la Fuente, Belén
dc.contributor.authorArroyo Solera, Margarita
dc.contributor.authorGarcía Albea, Esteban
dc.contributor.authorAgúndez, José A. G.
dc.date.accessioned2024-03-07T11:44:04Z
dc.date.available2024-03-07T11:44:04Z
dc.date.issued2015-08
dc.identifier.issn0025-7974
dc.identifier.urihttp://hdl.handle.net/10259/8774
dc.description.abstractSeveral neurochemical, neuropathological, neuroimaging, and experimental data, suggest that iron deficiency plays an important role in the pathophysiology of restless legs syndrome (RLS). Heme-oxygenases (HMOX) are an important defensive mechanism against oxidative stress, mainly through the degradation of heme to biliverdin, free iron, and carbon monoxide. We analyzed whether HMOX1 and HMOX2 genes are related with the risk to develop RLS. We analyzed the distribution of genotypes and allelic frequencies of the HMOX1 rs2071746, HMOX1 rs2071747, HMOX2 rs2270363, and HMOX2 rs1051308 SNPs, as well as the presence of Copy number variations (CNVs) of these genes in 205 subjects RLS and 445 healthy controls. The frequencies of rs2071746TT genotype and rs2071746T allelic variant were significantly lower in RLS patients than that in controls, although the other 3 studied SNPs did not differ between RLS patients and controls. None of the studied polymorphisms influenced the disease onset, severity of RLS, family history of RLS, serum ferritin levels, or response to dopaminergic agonist, clonazepam or GABAergic drugs. The present study suggests a weak association between HMOX1 rs2071746 polymorphism and the risk to develop RLS in the Spanish population.en
dc.description.sponsorshipThis work was supported in part by Grants PI12/00241, PI12/00324 and RETICS RD12/0013/0002 from Fondo de Investigacio´n Sanitaria, Instituto de Salud Carlos III, Madrid, Spain, and GR10068 from Junta de Extremadura, Me´rida, Spain, and PRIS10016 (Fundesalud, Me´rida, Spain), and by grants from the Spanish Ministry of Science and Innovation SAF2006-10126 (2006–2009) and SAF2010–22329-C02– 01 (2011–2013) to P.P and by the ‘‘Unio´n Te´cnica de Empresas’’ (UTE) project FIMA to P.P. and project from the Centro de Investigaciones Me´dicas Aplicadas (CIMA), Spain. Partially funded with FEDER funds.en
dc.format.mimetypeapplication/pdf
dc.language.isoenges
dc.publisherWolters Kluwer Healthen
dc.relation.ispartofMedicine. 2014, V. 94, n. 34en
dc.rightsAtribución 4.0 Internacional*
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/*
dc.subject.otherSistema nervioso-Enfermedadeses
dc.subject.otherNervous system-Diseasesen
dc.subject.otherMedicinaes
dc.subject.otherMedicineen
dc.titleHeme Oxygenase-1 and 2 Common Genetic Variants and Risk for Restless Legs Syndromeen
dc.typeinfo:eu-repo/semantics/articlees
dc.rights.accessRightsinfo:eu-repo/semantics/openAccesses
dc.relation.publisherversionhttps://journals.lww.com/md-journal/fulltext/2015/08040/heme_oxygenase_1_and_2_common_genetic_variants_and.45.aspxes
dc.identifier.doi10.1097/MD.0000000000001448
dc.journal.titleMedicineen
dc.volume.number94es
dc.issue.number34es
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersiones


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