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PMID: 15040808 Published · epublish English Journal Article

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

BMC medical genetics ·Vol. 5 ·2004-03-24 ·Pages 7

Arning L, Jagiello P, Wieczorek S, Saft C, Andrich J, Epplen JT

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 Omega 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.

MeSH Terms
Age of Onset Alleles Cohort Studies Gene Frequency Genotype Glutathione Transferase/genetics Humans Huntingtin Protein Huntington Disease/enzymology,genetics,pathology Isoenzymes/genetics Nerve Tissue Proteins/genetics Nuclear Proteins/genetics Trinucleotide Repeat Expansion/genetics
Chemicals
HTT protein, human Huntingtin Protein Isoenzymes Nerve Tissue Proteins Nuclear Proteins Glutathione Transferase
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Arning Larissa
Department of Human Genetics, Ruhr-University, 44780 Bochum, Germany. larissa.arning@rub.de
Jagiello Peter
Wieczorek Stefan
Saft Carsten
Andrich Jürgen
Epplen Jörg T
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Article Info
Journal
BMC medical genetics
Abbr.
BMC Med Genet
ISSN
1471-2350
Published
2004-03-24
Epub
2004-00-24
Pages
7
Language
English
Region
England
NLM ID
100968552
PMCID
PMC394327
Subset
IM
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