Patterns of maternal transmission in bipolar affective disorder

F. J. McMahon, O. C. Stine, D. A. Meyers, S. G. Simpson, J Raymond Depaulo

Research output: Contribution to journalArticle

Abstract

The mode of inheritance of bipolar affective disorder (BPAD) appears complex, and non-Mendelian models of inheritance have been postulated. Two non-Mendelian phenomena, genomic imprinting and mitochondrial inheritance, may contribute to the complex inheritance pattern seen in BPAD. Both imprinting and mitochondrial inheritance share the feature of differential expression of the phenotype, depending on the parent of origin. In this study we tested the hypothesis of a parent-of-origin effect on the transmission of BPAD. We examined the frequency and risk of affective disorder among relatives in a sample of 31 families ascertained through treated probands with BPAD and selected for the presence of affected phenotypes in only one parental lineage. Three specific comparisons were performed: (1) the observed frequency of transmitting mothers versus transmitting fathers; (2) the observed frequency and lifetime risk of BPAD among the maternal versus the paternal relatives of probands; and (3) the observed frequency and lifetime risk of BPAD for the offspring of affected mothers compared with the offspring of affected fathers. We observed a higher than expected frequency of affected mothers (P <.04), a 2.3-2.8-fold increased risk of illness for maternal relatives (P <.006), and a 1.3-2.5-fold increased risk of illness for the offspring of affected mothers (P <.017). In seven enlarged pedigrees, fathers repeatedly failed to transmit the affected phenotype to daughters or sons. Taken together, these findings indicate a maternal effect in the transmission of BPAD susceptibility and suggest that molecular studies of mtDNA and imprinted DNA are warranted in patients with BPAD.

Original languageEnglish (US)
Pages (from-to)1277-1286
Number of pages10
JournalAmerican Journal of Human Genetics
Volume56
Issue number6
StatePublished - 1995
Externally publishedYes

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Mood Disorders
Bipolar Disorder
Mothers
Fathers
Mitochondrial Genes
Nuclear Family
Phenotype
Genomic Imprinting
Inheritance Patterns
Pedigree
Mitochondrial DNA
DNA

ASJC Scopus subject areas

  • Genetics

Cite this

McMahon, F. J., Stine, O. C., Meyers, D. A., Simpson, S. G., & Depaulo, J. R. (1995). Patterns of maternal transmission in bipolar affective disorder. American Journal of Human Genetics, 56(6), 1277-1286.

Patterns of maternal transmission in bipolar affective disorder. / McMahon, F. J.; Stine, O. C.; Meyers, D. A.; Simpson, S. G.; Depaulo, J Raymond.

In: American Journal of Human Genetics, Vol. 56, No. 6, 1995, p. 1277-1286.

Research output: Contribution to journalArticle

McMahon, FJ, Stine, OC, Meyers, DA, Simpson, SG & Depaulo, JR 1995, 'Patterns of maternal transmission in bipolar affective disorder', American Journal of Human Genetics, vol. 56, no. 6, pp. 1277-1286.
McMahon, F. J. ; Stine, O. C. ; Meyers, D. A. ; Simpson, S. G. ; Depaulo, J Raymond. / Patterns of maternal transmission in bipolar affective disorder. In: American Journal of Human Genetics. 1995 ; Vol. 56, No. 6. pp. 1277-1286.
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