Glutathione S-Transferase Omega 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 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).


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.


CONCLUSIONS
The GSTO1 and GSTO2 genes flanked by the investigated polymorphisms are not comprised in a primary candidate region influencing AO in HD.
Arning
Larissa
L
Department of Human Genetics, Ruhr-University, 44780 Bochum, Germany. larissa.arning@rub.de
Jagiello
Peter
P
Wieczorek
Stefan
S
Saft
Carsten
C
Andrich
Jürgen
J
Epplen
Jörg T
JT
D017668:Age of Onset; D000483:Alleles; D015331:Cohort Studies; D005787:Gene Frequency; D005838:Genotype; D005982:Glutathione Transferase / Q000235:genetics*; D006801:Humans; D000071058:Huntingtin Protein; D006816:Huntington Disease / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D007527:Isoenzymes / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D019680:Trinucleotide Repeat Expansion / Q000235:genetics
C086055:HTT protein, human; D000071058:Huntingtin Protein; D007527:Isoenzymes; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D005982:Glutathione Transferase