A polymorphism located at an ATG transcription start site of the heme oxygenase-2 gene is associated with classical Parkinson's disease
Ayuso P, Martínez C, Lorenzo-Betancor O, Pastor P, Luengo A, Jiménez-Jiménez FJ, Alonso-Navarro H, Villalba MT, Agúndez JA, García-Martín E.
Department of Biochemistry, Molecular Biology and Genetics bDepartment of Pharmacology, University of Extremadura, Badajoz cRIRAAF/ RETICS, Redes Temáticas de Investigación Cooperativa en Salud dCIBERNED, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud Carlos III eNeurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra fDepartment of Neurology, Clínica Universitaria de Navarra, University of Navarra, School of Medicine, Pamplona gService of Neurology, Hospital Universitario La Princesa hDepartment of Medicine-Neurology, Hospital Príncipe de Asturias, Universidad de Alcalá iDepartment of Biochemistry and Molecular Biology, Complutense University of Madrid, Madrid jDepartment of Neurology, Hospital La Mancha-Centro de Alcázar de San Juan, Ciudad Real, Spain.
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.
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.
We describe for the first time, copy number variations in the HMOX2 gene and an association of the SNP rs2270363 with PD risk.
CITATION Pharmacogenet Genomics. 2011 Jun 24