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Autosomal recessive inheritance of affective disorders in families of responders to lithium prophylaxis?

In this paper we report the results of a study of the mode of inheritance in affective disorders responsive to lithium. Earlier we described a series of 71 families in which the genetic transmission was compatible with a single-gene model. We have now carried out an independent replication study on...

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Bibliographic Details
Published in:Journal of affective disorders 1997-07, Vol.44 (2), p.153-157
Main Authors: Alda, Martin, Grof, Eva, Cavazzoni, Patrizia, Duffy, Anne, Martin, Rory, Ravindran, Lakshmi, Grof, Paul
Format: Article
Language:English
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Summary:In this paper we report the results of a study of the mode of inheritance in affective disorders responsive to lithium. Earlier we described a series of 71 families in which the genetic transmission was compatible with a single-gene model. We have now carried out an independent replication study on 25 newly recruited families in a different geographical location. The autosomal recessive model from our original study could not be rejected with the new data. In a subsequent analysis of the pooled sample of 96 families, a recessive model with a common predisposing allele ( q=0.16) and sex-specific penetrance (0.35 in males, 0.66 in females) fitted the data best. On the other hand, X-chromosome and polygenic models could be rejected. The finding of a major-gene effect represents a specific hypothesis that can be tested by molecular genetic techniques.
ISSN:0165-0327
1573-2517
DOI:10.1016/S0165-0327(97)00042-6