Study Report

Reference	Hodgkinson, C. A.,2004 PMID: 15386212
Citation	Hodgkinson, C. A., D. Goldman, et al. (2004). "Disrupted in schizophrenia 1 (DISC1): association with schizophrenia, schizoaffective disorder, and bipolar disorder." Am J Hum Genet 75(5): 862-872.
Disease Type	Bipolar Disorder & Schizophrenia
Study Design	case-control
Study Type	Candidate-gene association study
Sample Size	217 healthy controls, 196 subjects diagnosed with schizophrenia, 82 subjects with bipolar disorder, and 62 subjects with schizoaffective disorder.
SNP/Region/Marker Size	39 SNPs
Predominant Ethnicity	Caucasian
Population	American
Gender	healthy controls(90 male, 127 female), subjects diagnosed with schizophrenia (141 male, 55 female),subjects with bipolar disorder (mean age 33.7 years), and subjects with schizoaffective disorder (mean age 39.8 years).
Age Group	Adults : healthy controls(mean age 46.3 years),subjects diagnosed with schizophrenia (mean age 39.1 years),subjects with bipolar disorder (mean age 33.7 years), and subjects with schizoaffective disorder (mean age 39.8 years).

Sample Diagnosis	DSM
Sample Status	Subjects were recruited from the clinical services of the Zucker Hillside Hospital, a division of the North Shore-Long Island Jewish Health System (NSLIJHS).Data were then compiled by the interviewer into a detailed narrative case summary. These summaries included information in regard to the onset and course of axis I disorders, presence of any axis II pathology that may have contributed to symptom presentation, any axis III diagnoses, and a brief description of the subject's psychosocial and occupational functioning during the course of their illness.All participants were North American white individuals of European origin.
Technique	genotyping
Statistical Method	Nonparametric testing for significance values for allelic and genotypic association was performed using a standard X2 test. Haplotype association was evaluated using the more stringent Fisher exact test, because haplotype frequencies sometimes equaled zero.
Result Summary	Multiple haplotypes contained within four haplotype blocks extending between exon 1 and exon 9 are associated with schizophrenia, schizoaffective disorder, and bipolar disorder. We also find overrepresentation of the exon 9 missense allele Phe607 in schizoaffective disorder. These data support the idea that these apparently distinct disorders have at least a partially convergent etiology and that variation at the DISC1 locus predisposes individuals to a variety of psychiatric disorders.