TY - JOUR
T1 - The Bipolar Association Case-Control Study (BACCS) and meta-analysis
T2 - No association with the 5,10-Methylenetetrahydrofolate reductase gene and bipolar disorder
AU - Cohen-Woods, Sarah
AU - Craig, Ian
AU - Gaysina, Darya
AU - Gray, Joanna
AU - Gunasinghe, Cerisse
AU - Craddock, Nick
AU - Elkin, Amanda
AU - Jones, Lisa
AU - Kennedy, James
AU - King, Nicole
AU - Korszun, Ania
AU - Knight, Jo
AU - Owen, Michael
AU - Parikh, Sagar
AU - Strauss, John
AU - Sterne, Abram
AU - Tozzi, Federica
AU - Perry, Julia
AU - Muglia, Pierandrea
AU - Vincent, John
AU - McGuffin, Peter
AU - Farmer, Anne
PY - 2010/10
Y1 - 2010/10
N2 - 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.
AB - 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.
KW - Alleles
KW - Bipolar Disorder/epidemiology
KW - Case-Control Studies
KW - Genetic Association Studies/methods
KW - Genotype
KW - Humans
KW - Methylenetetrahydrofolate Reductase (NADPH2)/genetics
KW - Polymorphism, Single Nucleotide
U2 - 10.1002/ajmg.b.31101
DO - 10.1002/ajmg.b.31101
M3 - Article
C2 - 20552676
SN - 1552-485X
VL - 153B
SP - 1298
EP - 1304
JO - American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics
JF - American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics
IS - 7
ER -