SIRT1 gene, schizophrenia and bipolar disorder in the Japanese population: an association study.

Kishi T, Fukuo Y, Kitajima T, Okochi T, Yamanouchi Y, Kinoshita Y, Kawashima K, Inada T, Kunugi H, Kato T, Yoshikawa T, Ujike H, Ozaki N, Iwata N. Genes Brain Behav. 2011 Apr; 10 (3) : 257-63.

Expanding on the previous literature implicating the circadian system in the pathopsychology of bipolar disorder, a genetic association study of 1158 Japanese schizophrenia patients, 730 patients with bipolar I disorder, 278 patients with bipolar II disorderand 2127 controls found a potential association between a sirt1 SNP (rs4746720) and schizophrenia (diagnosis based on psychiatrist assessed DSM-IV criteria). However, after the authors corrected for multiple comparisons via the Bonferroni correction, this association was no longer significant, implying that it may have been a false positive. 

Additionally, a haplotype analysis was performed, in which the authors discovered an association between several haplotypes and psychiatric illness. The T-T-T-T haplotype for the rs12778366rs2273773rs4746720rs10997875 sirt1 SNPs was associated with risk of schizophrenia and the T-T-C-T haplotype was protective against schizophrenia when compared to controls. Both of these associations were still significant after adjusting for multiple comparisons.

rs4746720 in sirt1

sirt1 rs4746720

NCBI Variation Viewer rs4746720


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