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The Bipolar Association Case-Control Study (BACCS) and meta-analysis: no association with the 5,10-Methylenetetrahydrofolate reductase gene and bipolar disorder

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  • Sarah Cohen-Woods
  • Ian Craig
  • Darya Gaysina
  • Joanna Gray
  • Cerisse Gunasinghe
  • Nick Craddock
  • Amanda Elkin
  • Lisa Jones
  • James Kennedy
  • Nicole King
  • Ania Korszun
  • Michael Owen
  • Sagar Parikh
  • John Strauss
  • Abram Sterne
  • Federica Tozzi
  • Julia Perry
  • Pierandrea Muglia
  • John Vincent
  • Peter McGuffin
  • Anne Farmer
<mark>Journal publication date</mark>5/10/2010
<mark>Journal</mark>American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Issue number7
Number of pages7
Pages (from-to)1298-1304
Publication StatusPublished
Early online date15/06/10
<mark>Original language</mark>English


Bipolar disorder (BD) is a complex genetic disease for which the underlying pathophysiology has yet to be fully explained. 5,10-Methylenetetrahydrofolate reductase (MTHFR) is a crucial enzyme in folate-mediated one-carbon metabolism and folate deficiency can be associated with psychiatric symptoms. A single base variant in MTHFR gene (C677T) results in the production of a mildly dysfunctional thermolabile enzyme and has recently been implicated in BD. We conducted an association study of this polymorphism in 897 patients with bipolar I or bipolar II disorder, and 1,687 healthy control subjects. We found no evidence for genotypic or allelic association in this sample. We also performed a meta-analysis of our own, and all published data, and report no evidence for association. Our findings suggest that the MTHFR C677T polymorphism is not involved in the genetic etiology of clinically significant BD.