Abstract
BackgroundHuntington'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).MethodsWe have genotyped the polymorphisms rs4925 GSTO1 and rs2297235 GSTO2 in 232 patients with HD and 228 controls.ResultsAfter 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.ConclusionThe GSTO1 and GSTO2 genes flanked by the investigated polymorphisms are not comprised in a primary candidate region influencing AO in HD.
Highlights
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
Recent association studies showed that single nucleotide polymorphisms (SNP) in the GSTO1 and GSTO2 gene region are associated with at onset (AO) in AD and Parkinson's disease (PD), rendering this region a likely candidate to affect AO in other neurodegenerative diseases, too [2]
As detailed in an earlier study concerning the clinically thoroughly characterised HD cohort [4], AO is negatively correlated with repeat lengths in the lower range of CAG expansions
Summary
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. HD is an autosomal dominantly transmitted, progressive, neurodegenerative disorder that is associated with an expanded block of CAG repeats in exon 1 of the IT15 gene (chromosome 4p) which encodes the protein huntingtin. The GSTO1 and GSTO2 genotypes were determined for HD patients that had previously been analysed with respect to CAG repeat length.
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