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

• Main Authors: Saft Carsten (Author), Wieczorek Stefan (Author), Jagiello Peter (Author), Arning Larissa (Author), Andrich Jürgen (Author), Epplen Jörg T (Author)
• Format: Book
• Published: BMC, 2004-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Summary

<p>Abstract</p> <p>Background</p> <p>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 <it>IT15 </it>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, <it>i.e</it>. to map the loci underlying the development and progression of the disease. Recently an association of Glutathione S-Transferase Ω 1 <it>(GSTO1) </it>and possibly of <it>GSTO2 </it>with AO was demonstrated for, both, Alzheimer's (AD) and Parkinson's disease (PD).</p> <p>Methods</p> <p>We have genotyped the polymorphisms rs4925 <it>GSTO1 </it>and rs2297235 <it>GSTO2 </it>in 232 patients with HD and 228 controls.</p> <p>Results</p> <p>After genotyping <it>GSTO1 </it>and <it>GSTO2 </it>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.</p> <p>Conclusion</p> <p>The <it>GSTO1 </it>and <it>GSTO2 </it>genes flanked by the investigated polymorphisms are not comprised in a primary candidate region influencing AO in HD.</p>

Item Description

10.1186/1471-2350-5-7
1471-2350