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BMC Medical Genetics

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Open Access 01-12-2004 | Research article

Glutathione S-Transferase Ω 1 variation does not influence age at onset of Huntington's disease

Authors: Larissa Arning, Peter Jagiello, Stefan Wieczorek, Carsten Saft, Jürgen Andrich, Jörg T Epplen

Published in: BMC Medical Genetics | Issue 1/2004

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 Ω 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.

Conclusion

The GSTO1 and GSTO2 genes flanked by the investigated polymorphisms are not comprised in a primary candidate region influencing AO in HD.

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The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2350/5/7/prepub

Title: Glutathione S-Transferase Ω 1 variation does not influence age at onset of Huntington's disease
Authors: Larissa Arning
Peter Jagiello
Stefan Wieczorek
Carsten Saft
Jürgen Andrich
Jörg T Epplen
Publication date: 01-12-2004
Publisher: BioMed Central
Published in: BMC Medical Genetics / Issue 1/2004
Electronic ISSN: 1471-2350
DOI: https://doi.org/10.1186/1471-2350-5-7

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Glutathione S-Transferase Ω 1 variation does not influence age at onset of Huntington's disease

Abstract

Background

Methods

Results

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Methods

Results

Conclusion

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