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    Por favor, use este identificador para citar o enlazar este ítem: http://hdl.handle.net/10259/8774

    Título
    Heme Oxygenase-1 and 2 Common Genetic Variants and Risk for Restless Legs Syndrome
    Autor
    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, EstherAutoridad UBU Orcid
    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.
    Publicado en
    Medicine. 2014, V. 94, n. 34
    Editorial
    Wolters Kluwer Health
    Fecha de publicación
    2015-08
    ISSN
    0025-7974
    DOI
    10.1097/MD.0000000000001448
    Résumé
    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.
    Materia
    Sistema nervioso-Enfermedades
    Nervous system-Diseases
    Medicina
    Medicine
    URI
    http://hdl.handle.net/10259/8774
    Versión del editor
    https://journals.lww.com/md-journal/fulltext/2015/08040/heme_oxygenase_1_and_2_common_genetic_variants_and.45.aspx
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    Nombre:
    Garcia-medicine_2014.pdf
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