Sweden-Schizophrenia Population-Based Case-Control Exome Sequencing

Current findings of the genetic risk of schizophrenia and bipolar disorder emerging from genome wide association studies (GWAS) support a highly polygenic model displaying the full spectrum of causal alleles that includes the extremes of rare, penetrant alleles as well as common alleles of small effect. Lower frequency polymorphism, rare variants and private mutations have eluded measurement by GWAS studies and thus association with disease. In order to create a comprehensive catalogue of low frequency or rare coding variation in individuals with psychiatric disease and to build a foundation for future genetic studies of schizophrenia and bipolar disorder, we have obtained whole exome DNA sequence from a population-based schizophrenia and bipolar disorder Swedish case-control cohort.]]>
Inclusion/Exclusion criteria: For schizophrenia cases, individuals ages 18-65 who have been hospitalized 2 or more times with schizophrenia discharge diagnosis on the Swedish Hospital Discharge Register, alive, born in Sweden or another Nordic country, both parents born in Sweden, and provide informed consent are eligible. Individuals with hospital register diagnosis consistent with a medical or other psychiatric disorder that mitigates the schizophrenia diagnosis, or relationship closer then 2nd degree relative with another case are excluded. For controls, individuals ages 18-65 matched to cases, never hospitalized with a discharge diagnosis of schizophrenia in the Inpatient Hospitalization register, alive, both parents born in Sweden, and provision of written informed consent are eligible. Control individuals with relation to any other case or control are excluded. ]]>