title: Heme Oxygenase-1 and 2 Common Genetic Variants and Risk for Restless Legs Syndrome.
abstract: 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.
authors: From the Department of Pharmacology, Universidad de Extremadura, Cáceres, Spain (EG-M, JAGA); Section of Neurology, Hospital Universitario del Sureste, Arganda del Rey (Madrid), Spain (FJJ-J, HA-N, FN, MC, JFPN, BP-D-LF, MA-S); Department of Medicine-Neurology, Hospital "Príncipe de Asturias". Universidad de Alcalá, Alcalá de Henares (Madrid), Spain (FJJ-J, HA-N, AR-S, LR, EG-A); Department of Pharmacology, University of Extremadura, Badajoz, Spain (CM); Section of Neurology, Hospital Virgen del Puerto, Plasencia (Cáceres), Spain (MZ); Section of Neurology, Hospital La Mancha-Centro, Alcázar de San Juan (Ciudad Real), Spain (LT-F, JM-P); Unit of Neurology, Clínica Recoletas, Zamora, Spain (TA-B); Section of Neurology, Hospital Universitario de Burgos, Burgos, Spain (EC); CIBERNED, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud Carlos III, Spain (SO-C, PP); Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, Universidad de Navarra, Pamplona, Spain (SO-C, PP); Department of Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine, Pamplona, Spain (PP); and Department of Neurology, Hospital Universitari Mutua de Terrassa, Terrassa, Barcelona, Spain (PP).
authors: Elena
authors: E
authors: García-Martín
authors: Félix Javier
authors: FJ
authors: Jiménez-Jiménez
authors: Hortensia
authors: H
authors: Alonso-Navarro
authors: Carmen
authors: C
authors: Martínez
authors: Martín
authors: M
authors: Zurdo
authors: Laura
authors: L
authors: Turpín-Fenoll
authors: Jorge
authors: J
authors: Millán-Pascual
authors: Teresa
authors: T
authors: Adeva-Bartolomé
authors: Esther
authors: E
authors: Cubo
authors: Francisco
authors: F
authors: Navacerrada
authors: Ana
authors: A
authors: Rojo-Sebastián
authors: Lluisa
authors: L
authors: Rubio
authors: Sara
authors: S
authors: Ortega-Cubero
authors: Pau
authors: P
authors: Pastor
authors: Marisol
authors: M
authors: Calleja
authors: José Francisco
authors: JF
authors: Plaza-Nieto
authors: Belén
authors: B
authors: Pilo-de-la-Fuente
authors: Margarita
authors: M
authors: Arroyo-Solera
authors: Esteban
authors: E
authors: García-Albea
authors: José A G
authors: JAG
authors: Agúndez
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D014644:Genetic Variation; D051547:Heme Oxygenase-1 / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012148:Restless Legs Syndrome / Q000235:genetics*; D012307:Risk Factors; D055815:Young Adult
chemical_list: D051547:Heme Oxygenase-1