Age of onset in Huntington disease: sex specific influence of apolipoprotein E genotype and normal CAG repeat length

Age of onset (AO) of Huntington disease (HD) is known to be correlated with the length of an expanded CAG repeat in the HD gene. Apolipoprotein E (APOE) genotype, in turn, is known to influence AO in Alzheimer disease, rendering the APOE gene a likely candidate to affect AO in other neurological dis...

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Bibliographic Details
Published in:Journal of medical genetics 1999-02, Vol.36 (2), p.108-111
Main Authors: Kehoe, Patrick, Krawczak, Michael, Harper, Peter S, Owen, Michael J, Jones, A Lesley
Format: Article
Language:English
Subjects:
Age of Onset
Anticipation, Genetic
APOE
Apolipoproteins
Apolipoproteins E - genetics
Biological and medical sciences
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Female
Females
Gender
Genes
Genetic Variation
Genotype
Genotype & phenotype
Humans
Huntington disease
Huntington Disease - genetics
Male
Medical sciences
Models, Statistical
Neurology
Original
Pathology
Proteins
Sex Factors
Survival
Survival analysis
Trinucleotide Repeats
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Summary:Age of onset (AO) of Huntington disease (HD) is known to be correlated with the length of an expanded CAG repeat in the HD gene. Apolipoprotein E (APOE) genotype, in turn, is known to influence AO in Alzheimer disease, rendering the APOE gene a likely candidate to affect AO in other neurological diseases too. We therefore determined APOE genotype and normal CAG repeat length in the HD gene for 138 HD patients who were previously analysed with respect to CAG repeat length. Genotyping for APOE was performed blind to clinical information. In addition to highlighting the effect of the normal repeat length upon AO in maternally inherited HD and in male patients, we show that the APOE ε2ε3 genotype is associated with significantly earlier AO in males than in females. Such a sex difference in AO was not apparent for any of the other APOE genotypes. Our findings suggest that subtle differences in the course of the neurodegeneration in HD may allow interacting genes to exert gender specific effects upon AO.
ISSN:0022-2593
1468-6244
DOI:10.1136/jmg.36.2.108