Human Molecular Genetics, Vol 5, 779-782, Copyright © 1996 by Oxford University Press
DC Rubinsztein, J Leggo, S Goodburn, C Walsh, S Jain and ES Paykel
The monoamine oxidase A locus (MAOA) at Xp11 was considered a good
candidate to investigate in bipolar affective disorder since this enzyme
plays an important role in the degradation of various neurotransmitters and
a mutation in this gene has been associated with borderline mental
retardation and a behavioural phenotype that has some resemblance to the
manic syndrome. Previous association studies comparing allele frequencies
of a microsatellite and RFLP at the monoamine oxidase A locus in bipolar
affective disorder cases and controls in the UK have yielded conflicting
results: Lim and colleagues reported a positive association, while no
evidence for allelic association was obtained by Cradock and co-workers. A
significant allelic association was observed between Japanese bipolar cases
and controls at the MAOA microsatellite but different alleles seemed to be
overrepresented in the bipolar cases in this population compared to the UK.
In order to resolve these differences, we have examined this locus in our
series of unrelated bipolar cases and age- and sex-matched controls and
found significantly different MAOA microsatellite allele frequencies. In
addition, we have pooled the data from the two previous UK studies with
ours to create a total data set including 67 males and 113 females with
bipolar affective disorder and a similar number of matched controls. No
evidence for heterogeneity was observed for the control MAOA microsatellite
or RFLP allele frequencies in these three studies. However, we found a
significant difference between the pooled normal and bipolar allele
frequencies both for the microsatellite and the RFLP at MAOA.
ARTICLES
Genetic association between monoamine oxidase A microsatellite and RFLP alleles and bipolar affective disorder: analysis and meta-analysis
East Anglian Medical Genetics Service Molecular Genetics Laboratory, Addenbrooke's NHS Trust, Cambridge, UK.
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