2026-06-23T01:24:07Zhttps://riubu.ubu.es/oai/requestoai:riubu.ubu.es:10259/87742024-03-08T01:05:28Zcom_10259_4219com_10259_5086com_10259_2604col_10259_4220
Repositorio Institucional de la Universidad de Burgos
author
García Martín, Elena
author
Jiménez Jiménez, Félix Javier
author
Alonso Navarro, Hortensia
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Martínez, Carmen
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Zurdo, Martín
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Turpín Fenoll, Laura
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Millán Pascual, Jorge
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Adeva Bartolomé, Teresa
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Cubo Delgado, Esther
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Navacerrada, Francisco
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Rojo Sebastián, Ana
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Rubio, Lluisa
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Ortega Cubero, Sara
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Pastor, Pau
author
Calleja, Marisol
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Plaza Nieto, José Francisco
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Pilo de la Fuente, Belén
author
Arroyo Solera, Margarita
author
García Albea, Esteban
author
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.
eng
Atribución 4.0 Internacional
Heme Oxygenase-1 and 2 Common Genetic Variants and Risk for Restless Legs Syndrome
info:eu-repo/semantics/article
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URL
https://riubu.ubu.es/bitstream/10259/8774/1/Garcia-medicine_2014.pdf
File
MD5
642a71656b951a86f537d93e1f463e93
209455
application/pdf
Garcia-medicine_2014.pdf