Study Report

Reference	Sabunciyan, S., 2007 PMID: 17541950
Citation	Sabunciyan, S., R. Yolken, et al. (2007). "Polymorphisms in the homeobox gene OTX2 may be a risk factor for bipolar disorder." Am J Med Genet B Neuropsychiatr Genet 144B(8): 1083-1086.
Disease Type	Bipolar Disorder & Schizophrenia
Study Design	case-control
Study Type	Candidate-gene association study
Sample Size	525 control, 720 bipolar disorder, 454 schizophrenia, 81 non psychotic depression
SNP/Region/Marker Size	2 SNPs
Predominant Ethnicity	Caucasian
Population	American

Sample Diagnosis	DSM-IV or RDC
Sample Status	The total sample consists of 720 bipolar disorder, 454 schizophrenia and 81 non-psychotic depression. The affection status of the 184 samples from the CEPH and Coriell collections and the 165 African-American neonates from Pittsburgh is not known since these individuals were not screened for any psychiatric disorders.
Technique	PCR amplification, resequencing and analyzed using the mutation surveyor software, further screening using a TaqMan assay
Statistical Method	Chi-square analysis
Result Summary	The minor allele of rs2277499 (T) did not associate with clinical diagnosis. However, using a Taqman genotyping assay, we found the rs28757218 minor allele (T) in 30 out of 720 (4.2%) individuals with bipolar disorder but only in 6 out of 526 (1.1%) control individuals (odds ratio 3.5, 95% confidence interval 1.4-10.4, P=0.003). On the other hand, the rs28757218 minor allele was only found in 6 out of 458 (1.3%) individuals with schizophrenia. All individuals with the rs28757218 polymorphism were heterozygous for the allele. Based on this positive case-control association finding, we conclude that variations in OTX2 might confer risk for the development of bipolar disorder.