2026-10-17T04:22:27Zhttps://riubu.ubu.es/oai/request

oai:riubu.ubu.es:10259/87742024-03-08T01:05:28Zcom_10259_4219com_10259_5086com_10259_2604col_10259_4220

García Martín, Elena Jiménez Jiménez, Félix Javier Alonso Navarro, Hortensia Martínez, Carmen Zurdo, Martín Turpín Fenoll, Laura Millán Pascual, Jorge Adeva Bartolomé, Teresa Cubo Delgado, Esther Navacerrada, Francisco Rojo Sebastián, Ana Rubio, Lluisa Ortega Cubero, Sara Pastor, Pau Calleja, Marisol Plaza Nieto, José Francisco Pilo de la Fuente, Belén Arroyo Solera, Margarita García Albea, Esteban Agúndez, José A. G. 2024-03-07T11:44:04Z 2024-03-07T11:44:04Z 2015-08 0025-7974 http://hdl.handle.net/10259/8774 10.1097/MD.0000000000001448 Several 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. This 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. application/pdf eng Wolters Kluwer Health Medicine. 2014, V. 94, n. 34 https://journals.lww.com/md-journal/fulltext/2015/08040/heme_oxygenase_1_and_2_common_genetic_variants_and.45.aspx Atribución 4.0 Internacional http://creativecommons.org/licenses/by/4.0/ info:eu-repo/semantics/openAccess Sistema nervioso-Enfermedades Medicina Nervous system-Diseases Medicine Heme Oxygenase-1 and 2 Common Genetic Variants and Risk for Restless Legs Syndrome info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Medicine 94 34