RT info:eu-repo/semantics/article
T1 Heme Oxygenase-1 and 2 Common Genetic Variants and Risk for Restless Legs Syndrome
A1 García Martín, Elena
A1 Jiménez Jiménez, Félix Javier
A1 Alonso Navarro, Hortensia
A1 Martínez, Carmen
A1 Zurdo, Martín
A1 Turpín Fenoll, Laura
A1 Millán Pascual, Jorge
A1 Adeva Bartolomé, Teresa
A1 Cubo Delgado, Esther
A1 Navacerrada, Francisco
A1 Rojo Sebastián, Ana
A1 Rubio, Lluisa
A1 Ortega Cubero, Sara
A1 Pastor, Pau
A1 Calleja, Marisol
A1 Plaza Nieto, José Francisco
A1 Pilo de la Fuente, Belén
A1 Arroyo Solera, Margarita
A1 García Albea, Esteban
A1 Agúndez, José A. G.
K1 Sistema nervioso-Enfermedades
K1 Nervous system-Diseases
K1 Medicina
K1 Medicine
AB 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.
PB Wolters Kluwer Health
SN 0025-7974
YR 2015
FD 2015-08
LK http://hdl.handle.net/10259/8774
UL http://hdl.handle.net/10259/8774
LA eng
NO 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.
DS Repositorio Institucional de la Universidad de Burgos
RD 10-may-2024