title: Autosomal recessive inheritance of affective disorders in families of responders to lithium prophylaxis?
abstract: 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.
authors.affiliation: Department of Psychiatry, University of Ottawa, Canada. malda@rohcg.on.ca
authors.forename: M
authors.initials: M
authors.lastname: Alda
authors.forename: E
authors.initials: E
authors.lastname: Grof
authors.forename: P
authors.initials: P
authors.lastname: Cavazzoni
authors.forename: A
authors.initials: A
authors.lastname: Duffy
authors.forename: R
authors.initials: R
authors.lastname: Martin
authors.forename: L
authors.initials: L
authors.lastname: Ravindran
authors.forename: P
authors.initials: P
authors.lastname: Grof
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D000928:Antidepressive Agents / Q000627:therapeutic use*; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D005260:Female; D006801:Humans; D008094:Lithium / Q000627:therapeutic use*; D008297:Male; D008875:Middle Aged; D019964:Mood Disorders / Q000235:genetics* / Q000517:prevention & control* / Q000523:psychology; D014960:X Chromosome
chemical_list: D000928:Antidepressive Agents; D008094:Lithium