Publicaciones científicas

A polymorphism located at an ATG transcription start site of the heme oxygenase-2 gene is associated with classical Parkinson's disease

24-jun-2011 | Revista: Pharmacogenetics and Genomics

Ayuso P, Martínez C, Lorenzo-Betancor O, Pastor P, Luengo A, Jiménez-Jiménez FJ, Alonso-Navarro H, Villalba MT, Agúndez JA, García-Martín E.

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.

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.

CITA DEL ARTÍCULO  Pharmacogenet Genomics. 2011 Jun 24