title: A polymorphism located at an ATG transcription start site of the heme oxygenase-2 gene is associated with classical Parkinson's disease.
abstract: OBJECTIVE
  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.
  
  
  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.
  
  
  CONCLUSIONS
  We describe for the first time, copy number variations in the HMOX2 gene and an association of the SNP rs2270363 with PD risk.
authors.affiliation: Department of Biochemistry, Molecular Biology and Genetics, University of Extremadura, Badajoz, Spain.
authors.forename: Pedro
authors.initials: P
authors.lastname: Ayuso
authors.forename: Carmen
authors.initials: C
authors.lastname: Martínez
authors.forename: Oswaldo
authors.initials: O
authors.lastname: Lorenzo-Betancor
authors.forename: Pau
authors.initials: P
authors.lastname: Pastor
authors.forename: Antonio
authors.initials: A
authors.lastname: Luengo
authors.forename: Félix J
authors.initials: FJ
authors.lastname: Jiménez-Jiménez
authors.forename: Hortensia
authors.initials: H
authors.lastname: Alonso-Navarro
authors.forename: Maria T
authors.initials: MT
authors.lastname: Villalba
authors.forename: José A G
authors.initials: JA
authors.lastname: Agúndez
authors.forename: Elena
authors.initials: E
authors.lastname: García-Martín
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D056915:DNA Copy Number Variations / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006419:Heme Oxygenase (Decyclizing) / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D024363:Transcription Initiation Site
chemical_list: D006419:Heme Oxygenase (Decyclizing); C105245:heme oxygenase-2