A polymorphism located at an ATG transcription start site of the heme oxygenase-2 gene is associated with classical Parkinson's disease
| Autor: | Pedro Ayuso, Carmen Martínez, Félix Javier Jiménez-Jiménez, José A. G. Agúndez, Maria T. Villalba, Antonio Luengo, Pau Pastor, Elena García-Martín, Hortensia Alonso-Navarro, Oswaldo Lorenzo-Betancor |
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| Rok vydání: | 2011 |
| Předmět: |
Adult
Male HMOX2 Adolescent DNA Copy Number Variations Genotype Single-nucleotide polymorphism Biology Polymorphism Single Nucleotide chemistry.chemical_compound Gene Frequency Risk Factors Genetics SNP Humans Genetic Predisposition to Disease Copy-number variation General Pharmacology Toxicology and Pharmaceutics Molecular Biology Gene Heme Genetics (clinical) Genetic Association Studies Aged Aged 80 and over Parkinson Disease Middle Aged Heme oxygenase chemistry Haplotypes Heme Oxygenase (Decyclizing) biology.protein Molecular Medicine Female Transcription Initiation Site |
| Zdroj: | Pharmacogenetics and genomics. 21(9) |
| ISSN: | 1744-6880 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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