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Heme Oxygenase 1 and 2 Common Genetic Variants and Risk for Essential Tremor
Pedro Ayuso1, José A G Agúndez, Hortensia Alonso-Navarro
1From the Department of Pharmacology (PA, JAGA, CM, EG-M), Universidad de Extremadura, Cáceres; Research Network on Adverse Reactions to Allergens and Drugs (PA, JAGA, CM, EG-M); Department of Medicine-Neurology (HA-N, FJJ-J), Hospital "Príncipe de Asturias," Universidad de Alcalá, Alcalá de Henares; Section of Neurology (HA-N, FJJ-J), Hospital Universitario del Sureste, Arganda del Rey; Service of Neurology (JB-L), Hospital Doce de Octubre, Department of Medicine, Universidad Complutense, Madrid; CIBERNED (JB-L, SO-C, OL-B, PP), Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud Carlos III; Neurogenetics Laboratory (SO-C, OL-B, PP), Division of Neurosciences, Center for Applied Medical Research, Universidad de Navarra; Department of Neurology (SO-C, OL-B, PP), Clínica Universitaria de Navarra, University of Navarra School of Medicine, Pamplona; Department of Neurology (PP), Hospital Universitari Mutua de Terrassa, Terrassa, Barcelona; and Department of Neurology (TL-A), Hospital Universitario de Salamanca, Spain.
Abstract:
Several reports suggested a role of heme oxygenase genes 1 and 2 (HMOX1 and HMOX2) in modifying the risk to develop Parkinson disease (PD). Because essential tremor (ET) and PD share phenotypical and, probably, etiologic factors of the similarities, we analyzed whether such genes are related with the risk to develop ET. We analyzed the distribution of allelic and genotype frequencies of the HMOX1 rs2071746, HMOX1 rs2071747, HMOX2 rs2270363, and HMOX2 rs1051308 single nucleotide polymorphisms, as well as the presence of copy number variations of these genes in 202 subjects with familial ET and 747 healthy controls. Allelic frequencies of rs2071746T and rs1051308G were significantly lower in ET patients than in controls. None of the studied polymorphisms influenced the disease onset. The present study suggests a weak association between HMOX1 rs2071746 and HMOX2 rs1051308 polymorphisms and the risk to develop ET in the Spanish population.
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