Identificador persistente para citar o vincular este elemento: http://hdl.handle.net/10662/20153
Títulos: A polymorphism located at an ATG transcription start site of the heme oxygenase-2 gene is associated with classical Parkinson’s disease
Autores/as: Ayuso Parejo, Pedro
Martínez, Carmen
Lorenzo Betancor, Oswaldo
Pastor Muñoz, Pau
Luengo, Antonio
Jiménez Jiménez, Félix Javier
Alonso Navarro, Hortensia
Villalba, María T
García-Agúndez Pérez-Coca, José Augusto
García Martín, Elena
Palabras clave: Variaciones número de copias;Copy number variations;Heme oxygenase 2;Hemo oxigenasa 2;Parkinson’s disease;Enfermedad de Parkinson;Polymorphisms;Polimorfismos
Fecha de publicación: 2011
Editor/a: Lippincott Williams & Wilkins
Resumen: Aim Oxidative stress and iron deposition is related to Parkinson’s disease (PD). Heme oxygenase 2 (HMOX2) catalyzes the cleavage of the heme ring to form biliverdin with release of iron and carbon monoxide. This study aims to analyze variations in the HMOX2 gene in patients with PD. Materials and methods We mapped four single nucleotide polymorphisms (SNPs) and copy number variations of the HMOX2 gene in 691 patients with PD and 747 healthy individuals. Results We identified a highly homogeneous association of the HMOX2 SNP rs2270363 homozygous G/G genotype with patients with classical PD phenotype compared with healthy individuals. We identified three patients with PD and two control individuals with a single copy of the HMOX2 gene. No individuals with zero or more than two gene copies were identified. Conclusion We describe for the first time, copy number variations in the HMOX2 gene and an association of the SNP rs2270363 with PD risk.
URI: http://hdl.handle.net/10662/20153
ISSN: 1744-6872
1744-6880
DOI: 10.1097/FPC.0b013e328348f729
Colección:DBYBM - Artículos
DTMQU - Artículos

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