ORIGINAL ARTICLESA polymorphism located at an ATG transcription start site of the heme oxygenase-2 gene is associated with classical Parkinson's diseaseAyuso, Pedroa,c; Martínez, Carmenb,c; Lorenzo-Betancor, Oswaldoe,f; Pastor, Paud,e,f; Luengo, Antoniog; Jiménez-Jiménez, Félix J.h; Alonso-Navarro, Hortensiaj; Villalba, Maria T.c,i; Agúndez, José A.G.b,c; García-Martín, Elenaa,cAuthor Information aDepartment 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 Supplemental digital content is available for this article. Direct URL citations appear in the printed text and are provided in the HTML and PDF versions of this article on the journal's Website (www.pharmacogeneticsandgenomics.com). Correspondence to Dr Elena García-Martín, MD, PhD, Department of Biochemistry, Molecular Biology, and Genetics, University of Extremadura, Avda. de Elvas s/n, Badajoz 06071, Spain Tel/fax: +34 24 27 96 76; e-mail: [email protected] Received April 4, 2011 Accepted May 19, 2011 Pharmacogenetics and Genomics: September 2011 - Volume 21 - Issue 9 - p 565-571 doi: 10.1097/FPC.0b013e328348f729 Buy SDC Metrics Abstract 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. © 2011 Lippincott Williams & Wilkins, Inc.