title: Association of mitochondrial complex I subunit gene NDUFV2 at 18p11 with schizophrenia in the Japanese population.
abstract: Schizophrenia and bipolar disorder share common genetic background. Several loci such as 18p11, 13q32, and 22q11-13 were commonly linked with these diseases. Since mitochondrial dysfunction has been suggested in both of these disorders, NDUFV2 at 18p11, encoding a subunit of the complex I, NADH ubiquinone oxidoreductase, is a candidate gene for these diseases. We previously reported that single nucleotide polymorphisms (SNPs) in the upstream region of NDUFV2 were associated with bipolar disorder in Japanese. The association of haplotype consisting of two SNPs, -3542G > A and -602G > A, with bipolar disorder was also seen both in Japanese and the National Institute of Mental Health Pedigrees trios. In this study, 2 polymorphisms, -3542G > A and -602G > A, were investigated in 229 schizophrenic patients as compared with controls. Individual genotypes were not associated with schizophrenia. However, the haplotype consisting of these two SNPs were significantly associated with schizophrenia. These results suggested that inter-individual variation of the genomic sequence of the promoter region of NDUFV2 might be a genetic risk factor common to bipolar disorder and schizophrenia.
authors.affiliation: Laboratory for Molecular Dynamics of Mental Disorders, Brain Science Institute, RIKEN, Saitama, Japan.
authors.forename: Shinsuke
authors.initials: S
authors.lastname: Washizuka
authors.forename: Mizue
authors.initials: M
authors.lastname: Kametani
authors.forename: Tsukasa
authors.initials: T
authors.lastname: Sasaki
authors.forename: Mamoru
authors.initials: M
authors.lastname: Tochigi
authors.forename: Tadashi
authors.initials: T
authors.lastname: Umekage
authors.forename: Kazuhisa
authors.initials: K
authors.lastname: Kohda
authors.forename: Tadafumi
authors.initials: T
authors.lastname: Kato
mesh_terms: D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D042967:Electron Transport Complex I / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007564:Japan; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D024101:Mitochondrial Proteins / Q000235:genetics*; D009245:NADH Dehydrogenase; D020641:Polymorphism, Single Nucleotide; D012559:Schizophrenia / Q000235:genetics*
chemical_list: D024101:Mitochondrial Proteins; D009245:NADH Dehydrogenase; D042967:Electron Transport Complex I; C492562:NDUFV2 protein, human