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

Jun 24, 2011 | Magazine: 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.

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.

CITATION Pharmacogenet Genomics. 2011 Jun 24

see publication in pubmed