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Glutathione S-Transferase Ω 1 variation does not influence age at onset of Huntington's disease
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 diso...
Autores principales: | , , , , , |
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Formato: | Texto |
Lenguaje: | English |
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BioMed Central
2004
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC394327/ https://www.ncbi.nlm.nih.gov/pubmed/15040808 http://dx.doi.org/10.1186/1471-2350-5-7 |
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author | Arning, Larissa Jagiello, Peter Wieczorek, Stefan Saft, Carsten Andrich, Jürgen Epplen, Jörg T |
author_facet | Arning, Larissa Jagiello, Peter Wieczorek, Stefan Saft, Carsten Andrich, Jürgen Epplen, Jörg T |
author_sort | Arning, Larissa |
collection | PubMed |
description | 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. |
format | Text |
id | pubmed-394327 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2004 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-3943272004-04-22 Glutathione S-Transferase Ω 1 variation does not influence age at onset of Huntington's disease Arning, Larissa Jagiello, Peter Wieczorek, Stefan Saft, Carsten Andrich, Jürgen Epplen, Jörg T BMC Med Genet Research Article 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. BioMed Central 2004-03-24 /pmc/articles/PMC394327/ /pubmed/15040808 http://dx.doi.org/10.1186/1471-2350-5-7 Text en Copyright © 2004 Arning et al; licensee BioMed Central Ltd. This is an Open Access article: verbatim copying and redistribution of this article are permitted in all media for any purpose, provided this notice is preserved along with the article's original URL. |
spellingShingle | Research Article Arning, Larissa Jagiello, Peter Wieczorek, Stefan Saft, Carsten Andrich, Jürgen Epplen, Jörg T Glutathione S-Transferase Ω 1 variation does not influence age at onset of Huntington's disease |
title | Glutathione S-Transferase Ω 1 variation does not influence age at onset of Huntington's disease |
title_full | Glutathione S-Transferase Ω 1 variation does not influence age at onset of Huntington's disease |
title_fullStr | Glutathione S-Transferase Ω 1 variation does not influence age at onset of Huntington's disease |
title_full_unstemmed | Glutathione S-Transferase Ω 1 variation does not influence age at onset of Huntington's disease |
title_short | Glutathione S-Transferase Ω 1 variation does not influence age at onset of Huntington's disease |
title_sort | glutathione s-transferase ω 1 variation does not influence age at onset of huntington's disease |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC394327/ https://www.ncbi.nlm.nih.gov/pubmed/15040808 http://dx.doi.org/10.1186/1471-2350-5-7 |
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