Study Report

Reference	Kushima, I.,2010 PMID: 20111060
Citation	Kushima, I., B. Aleksic, et al. (2010). "Association study of ubiquitin-specific peptidase 46 (USP46) with bipolar disorder and schizophrenia in a Japanese population." J Hum Genet 55(3): 133-136.
Disease Type	Bipolar Disorder & Schizophrenia
Study Design	case-control
Study Type	Candidate-gene association study
Sample Size	For the bipolar disorder study, 867 cases and 895 age- and gender-matched controls were used.For the schizophrenia study, 715 cases and age and gender-matched 711 controls were used.
SNP/Region/Marker Size	7 SNPs
Predominant Ethnicity	Mongloid
Population	Japanese
Age Group	Adults : Mean age(SD)(year):50.7(14.2) in BD patients,49.9(13.5) in BD controls;47.5(14.0) in SZ patients,46.7(13.1) in SZ controls

Sample Diagnosis	DSM
Sample Status	For the bipolar disorder study:This sample panel was the same as used in the Collaborative Study of Mood Disorder consortium study.19 Seven laboratories (National Institute of Neuroscience, two laboratories of RIKEN Brain Science Institute, Kohnodai Hospital, Teikyo University, Okayama University and Fujita Health University) provided case and control samples. The proportion of cases with each disorder was 67.5, 31.9 and 0.6% for bipolar I disorder, bipolar II disorder and schizoaffective disorder, respectively. For the schizophrenia study:All subjects were of Japanese descent. Consensus diagnosis of bipolar disorder or schizophrenia was made according to the criteria of the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, by at least two experienced psychiatrists, on the basis of unstructured interviews, available medical records, and information from hospital staff and relatives. Controls were psychiatrically screened using an unstructured interview to exclude subjects with brain disorders or psychotic disorders.
Technique	PCR and sequencing
Statistical Method	The X2-test was used to compare the allele or genotype frequencies between cases and controls.
Result Summary	The allele frequencies for three of the four common variants were very similar in bipolar patients and controls. A slight difference in allele frequency was found for an interesting mutation we detected in intron 12 in which two non-adjacent thymidine residues are deleted in a poly-AT tract located near the exon 12 splice donor site (chi(2) = 2.45, P = 0.12, 2-tailed). Although we failed to unequivocally identify a specific SYNJ1 allele that could be responsible for putative chromosome 21q22-linked BPD, several interesting variants were found to be increased in bipolar subjects and should be further investigated.