AUTOSOMAL RECESSIVE INHERITANCE OF AFFECTIVE-DISORDERS IN FAMILIES OFRESPONDERS TO LITHIUM PROPHYLAXIS

In this paper we report the results of a study of the mode of inherita nce in affective disorders responsive to lithium. Earlier we described a series of 71 families in which the genetic transmission was compati ble with a single-gene model. We have now carried out an independent r eplication study on 25 newly recruited families in a different geograp hical location. The autosomal recessive model from our original study could not be rejected with the new data. In a subsequent analysis of t he pooled sample of 96 families, a recessive model with a common predi sposing 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 a nd polygenic models could be rejected. The finding of a major-gene eff ect represents a specific hypothesis that can be tested by molecular g enetic techniques. (C) 1997 Elsevier Science B.V.