title: Glutathione S-Transferase Omega 1 variation does not influence age at onset of Huntington's disease.
abstract: BACKGROUND
  Huntington's disease (HD) is a fully penetrant, autosomal dominantly inherited disorder associated with abnormal expansions of a stretch of perfect CAG repeats in the 5' part of the IT15 gene. The number of repeat units is highly predictive for the age at onset (AO) of the disorder. But AO is only modestly correlated with repeat length when intermediate HD expansions are considered. Circumstantial evidence suggests that additional features of the HD course are based on genetic traits. Therefore, it may be possible to investigate the genetic background of HD, i.e. to map the loci underlying the development and progression of the disease. Recently an association of Glutathione S-Transferase Omega 1 (GSTO1) and possibly of GSTO2 with AO was demonstrated for, both, Alzheimer's (AD) and Parkinson's disease (PD).
  
  
  METHODS
  We have genotyped the polymorphisms rs4925 GSTO1 and rs2297235 GSTO2 in 232 patients with HD and 228 controls.
  
  
  RESULTS
  After genotyping GSTO1 and GSTO2 polymorphisms, firstly there was no statistically significant difference in AO for HD patients, as well as secondly for HD patients vs. controls concerning, both, genotype and allele frequencies, respectively.
  
  
  CONCLUSIONS
  The GSTO1 and GSTO2 genes flanked by the investigated polymorphisms are not comprised in a primary candidate region influencing AO in HD.
authors.affiliation: Department of Human Genetics, Ruhr-University, 44780 Bochum, Germany. larissa.arning@rub.de
authors.forename: Larissa
authors.initials: L
authors.lastname: Arning
authors.forename: Peter
authors.initials: P
authors.lastname: Jagiello
authors.forename: Stefan
authors.initials: S
authors.lastname: Wieczorek
authors.forename: Carsten
authors.initials: C
authors.lastname: Saft
authors.forename: Jürgen
authors.initials: J
authors.lastname: Andrich
authors.forename: Jörg T
authors.initials: JT
authors.lastname: Epplen
mesh_terms: D017668:Age of Onset; D000483:Alleles; D015331:Cohort Studies; D005787:Gene Frequency; D005838:Genotype; D005982:Glutathione Transferase / Q000235:genetics*; D006801:Humans; D000071058:Huntingtin Protein; D006816:Huntington Disease / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D007527:Isoenzymes / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D019680:Trinucleotide Repeat Expansion / Q000235:genetics
chemical_list: C086055:HTT protein, human; D000071058:Huntingtin Protein; D007527:Isoenzymes; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D005982:Glutathione Transferase