Glutathione S-Transferase Ω 1 variation does not influence age at onset of Huntington's disease
Open Access
- 24 March 2004
- journal article
- research article
- Published by Springer Nature in BMC Medical Genetics
- Vol. 5 (1) , 7
- https://doi.org/10.1186/1471-2350-5-7
Abstract
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 Ω 1 (GSTO1) and possibly of GSTO2 with AO was demonstrated for, both, Alzheimer's (AD) and Parkinson's disease (PD). We have genotyped the polymorphisms rs4925 GSTO1 and rs2297235 GSTO2 in 232 patients with HD and 228 controls. 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. The GSTO1 and GSTO2 genes flanked by the investigated polymorphisms are not comprised in a primary candidate region influencing AO in HD.Keywords
This publication has 9 references indexed in Scilit:
- Glutathione S-transferase omega-1 modifiesage-at-onset of Alzheimer disease and Parkinson diseaseHuman Molecular Genetics, 2003
- Glutathione S-Transferase Omega 1-1 Is a Target of Cytokine Release Inhibitory Drugs and May Be Responsible for Their Effect on Interleukin-1औ Posttranslational ProcessingJournal of Biological Chemistry, 2003
- Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington diseaseAmerican Journal of Medical Genetics Part A, 2003
- Toxic Proteins in Neurodegenerative DiseaseScience, 2002
- Apolipoprotein E Receptors Mediate the Effects of β-Amyloid on Astrocyte CulturesJournal of Biological Chemistry, 2000
- Age of onset in Huntington disease: sex specific influence of apolipoprotein E genotype and normal CAG repeat length.1999
- Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington diseaseProceedings of the National Academy of Sciences, 1997
- A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington's disease chromosomesMolecular and Cellular Probes, 1993