ID

45464

Description

Principal Investigator: Shaun Purcell, PhD, Broad Institute, Cambridge, MA, USA MeSH: Schizophrenia https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000473 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.

Link

dbGap study = phs000473

Keywords

Versions (2)
  1. 10/20/22 10/20/22 - Simon Heim
  2. 12/13/22 12/13/22 - Kristina Keller
Copyright Holder

Shaun Purcell, PhD, Broad Institute, Cambridge, MA, USA

Uploaded on

December 13, 2022

DOI

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License

Creative Commons BY 4.0
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dbGaP phs000473 Sweden-Schizophrenia Population-Based Case-Control Exome Sequencing

English

Eligibility Criteria

5 forms  
Inclusion and exclusion criteria
Description

Inclusion and exclusion criteria

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.
Description

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.

Data type

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C1706256
UMLS CUI [1,3]
C0036341
UMLS CUI [1,4]
C0001779
UMLS CUI [1,5]
C0019993
UMLS CUI [1,6]
C3841879
UMLS CUI [1,7]
C4551704
UMLS CUI [1,8]
C1277386
UMLS CUI [1,9]
C0036273
UMLS CUI [1,10]
C0030551
UMLS CUI [1,11]
C1300001
UMLS CUI [1,12]
C0021430
UMLS CUI [2,1]
C0680251
UMLS CUI [2,2]
C1706256
UMLS CUI [2,3]
C0455498
UMLS CUI [2,4]
C1553901
UMLS CUI [2,5]
C0036341
UMLS CUI [2,6]
C0011900
UMLS CUI [3,1]
C0680251
UMLS CUI [3,2]
C1519210
UMLS CUI [3,3]
C1706256
UMLS CUI [4,1]
C1512693
UMLS CUI [4,2]
C0009932
UMLS CUI [4,3]
C0001779
UMLS CUI [4,4]
C2003901
UMLS CUI [4,5]
C0019993
UMLS CUI [4,6]
C0036341
UMLS CUI [4,7]
C4551704
UMLS CUI [4,8]
C0030551
UMLS CUI [4,9]
C1277386
UMLS CUI [4,10]
C0021430
UMLS CUI [5,1]
C0680251
UMLS CUI [5,2]
C0009932
UMLS CUI [5,3]
C0869014
UMLS CUI [5,4]
C4554048
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Similar models

Eligibility Criteria

5 forms
Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
Inclusion and exclusion criteria
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.
Item
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.
boolean
C1512693 (UMLS CUI [1,1])
C1706256 (UMLS CUI [1,2])
C0036341 (UMLS CUI [1,3])
C0001779 (UMLS CUI [1,4])
C0019993 (UMLS CUI [1,5])
C3841879 (UMLS CUI [1,6])
C4551704 (UMLS CUI [1,7])
C1277386 (UMLS CUI [1,8])
C0036273 (UMLS CUI [1,9])
C0030551 (UMLS CUI [1,10])
C1300001 (UMLS CUI [1,11])
C0021430 (UMLS CUI [1,12])
C0680251 (UMLS CUI [2,1])
C1706256 (UMLS CUI [2,2])
C0455498 (UMLS CUI [2,3])
C1553901 (UMLS CUI [2,4])
C0036341 (UMLS CUI [2,5])
C0011900 (UMLS CUI [2,6])
C0680251 (UMLS CUI [3,1])
C1519210 (UMLS CUI [3,2])
C1706256 (UMLS CUI [3,3])
C1512693 (UMLS CUI [4,1])
C0009932 (UMLS CUI [4,2])
C0001779 (UMLS CUI [4,3])
C2003901 (UMLS CUI [4,4])
C0019993 (UMLS CUI [4,5])
C0036341 (UMLS CUI [4,6])
C4551704 (UMLS CUI [4,7])
C0030551 (UMLS CUI [4,8])
C1277386 (UMLS CUI [4,9])
C0021430 (UMLS CUI [4,10])
C0680251 (UMLS CUI [5,1])
C0009932 (UMLS CUI [5,2])
C0869014 (UMLS CUI [5,3])
C4554048 (UMLS CUI [5,4])
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