2026-04-28T17:34:37Zhttps://riubu.ubu.es/oai/request

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

00925njm 22002777a 4500 dc García Martín, Elena author Jiménez Jiménez, Félix Javier author Alonso Navarro, Hortensia author Martínez, Carmen author Zurdo, Martín author Turpín Fenoll, Laura author Millán Pascual, Jorge author Adeva Bartolomé, Teresa author Cubo Delgado, Esther author Navacerrada, Francisco author Rojo Sebastián, Ana author Rubio, Lluisa author Ortega Cubero, Sara author Pastor, Pau author Calleja, Marisol author Plaza Nieto, José Francisco author Pilo de la Fuente, Belén author Arroyo Solera, Margarita author García Albea, Esteban author Agúndez, José A. G. author 2015-08 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. 0025-7974 http://hdl.handle.net/10259/8774 10.1097/MD.0000000000001448 Heme Oxygenase-1 and 2 Common Genetic Variants and Risk for Restless Legs Syndrome