Sequence variations in CREB1 cosegregate with depressive disorders in women

G. S. Zubenko, H. B. Hughes, J. S. Stiffler, A. Brechbiel, W. N. Zubenko, B. S. Maher, M. L. Marazita

Research output: Contribution to journalArticlepeer-review

78 Scopus citations


Major depressive disorder (MDD) constitutes a major public health problem worldwide and affects women twice as frequently as men. Previous linkage studies have identified a 451 kb region of 2q33-35 that exhibited significant evidence of linkage to Mood Disorders among women (but not men) from families with recurrent, early-onset MDD (RE-MDD), a severe and strongly familial subtype of MDD. This 451kb region includes CREB1, an attractive susceptibility gene for MDD and related disorders. Sequence variations in the CREB1 promoter and intron 8 have been detected that cosegregate with Mood Disorders, or their absence, in women from these families, identifying CREB1 as a sex-limited susceptibility gene for unipolar Mood Disorders. These findings implicate the cAMP signaling pathway in the pathophysiology of Mood Disorders and related conditions.

Original languageEnglish (US)
Pages (from-to)611-618
Number of pages8
JournalMolecular psychiatry
Issue number6
StatePublished - 2003
Externally publishedYes


  • CREB1
  • Depression
  • Genetics
  • Sex-specific
  • Women

ASJC Scopus subject areas

  • Molecular Biology
  • Psychiatry and Mental health
  • Cellular and Molecular Neuroscience


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