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Study Description

Sub-study QI: 941 cases of Major Depressive Disorder (MDD) from the Queensland Institute of Medical Research (QIMR), Australia
Sub-study VU: 127 MDD cases from The Netherlands Study of Anxiety and Depression (NESDA) ( and The Netherlands Twin Registry (NTR) ( based at the VU Amsterdam, The Netherlands.
Sub-study ED: 373 MDD cases from the University of Edinburgh, UK.

  • Study Type: Case Set
  • Number of study subjects that have individual level data available through Authorized Access: 1441

Authorized Access
Publicly Available Data (Public ftp)

Connect to the public download site. The site contains release notes and manifests. If available, the site also contains data dictionaries, variable summaries, documents, and truncated analyses.

Study Inclusion/Exclusion Criteria

Sub-study QI:
Study participants were adult twins and their families recruited through the Australian Twin Registry ( at the Queensland Institute of Medical Research (QIMR). Only unrelated individuals were included in MDD2000AFFY. MDD cases were identified through psychiatric questionnaires, either the shortened Composite International Diagnostic Interview or, for the majority (94%), through the SSAGA-OZ interview instrument (a version of the Semi-Structured Assessment for the Genetics of Alcoholism modified for use in Australia), a comprehensive psychiatric interview designed to assess MDD and other psychiatric disorders according to DSM-IIIR and DSM-IV criteria. Structured interviews were administered by trained telephone interviewers, closely supervised by a clinical psychologist. Briefly, from 1988 to 1990, study participants were mailed an extensive health and lifestyle questionnaire, which included the shortened revised Eysenck personality questionnaire. Sum scores of 12 item responses in each personality domain resulted in quantitative scores for neuroticism. Between 1992-2000, an unselected subset of these participants were interviewed by telephone using the SSAGA-OZ. Over the period 1996-1999 sibling pairs that were either concordant or discordant for extreme neuroticism scores (one sibling in the top or bottom decile, the other sibling in the top or bottom quintile) were recruited to complete the Composite International Diagnostic Interview, which provides DSM-IV lifetime diagnoses of MDD. Finally, some study participants completed the SSAGA-OZ telephone questionnaire in 2003-2007 as part of alcohol and nicotine dependence studies. Screening items for mania were not consistent across interviews and screening items for psychosis were not included; the ability to assess accurately these less common criteria is difficult in large-scale community settings. Therefore, it is possible that a small number of individuals with a primary diagnosis of bipolar disorder or schizophrenia are included in the case group. Some participants may be the same or relatives of those in the OZ-ALC study (dbGaP phs000181.v1.p1).

Sub-study VU:
These samples do not overlap with those included in a prior MDD GWAS (PMID: 19065144, dbGaP: phs000020.v2.p1) but are drawn from the same parent studies (and include a small number of related individuals). Similar inclusion and exclusion criteria were used to select MDD cases from both the NESDA and NTR studies. Inclusion criteria were a lifetime diagnosis of DSM-IV MDD as determined by the Composite International Diagnostic Interview, age 18-65 years, and self-reported western European ancestry. Those not fluent in Dutch or with a primary diagnosis of schizophrenia.

Sub-study ED:
MDD cases were recruited through in- and out-patient services of psychiatric hospitals in Scotland and were tertiary referrals from primary care. All patients were interviewed by an experienced psychiatrist using the Schedule for Affective Disorders and Schizophrenia-Lifetime, supplemented by hospital case note review and information from informants. Final determination of MDD as the primary DSM-IV diagnosis was made by consensus of two psychiatrists. All cases had a lifetime history of recurrent MDD and IQ > 70. No phenotypic data other than diagnosis and sex are available for this cohort.

Molecular Data
TypeSourcePlatformNumber of Oligos/SNPsSNP Batch IdComment
Whole Genome Genotyping Affymetrix AFFY_6.0 934940 52074
Study History

The MDD200AFFY cohort contributed to the MDD2000 genome-wide association study (PMID: 21042317). In the MDD2000 study the MDD2000AFFY cases were matched to the 'Molecular Genetics of Schizophrenia II' collaboration control set (MGS2). The MDD2000AFFY cohort was not included in the first Psychiatric Genomics Consortium MDD (PGC-MDD) Working Group paper (PMID: 22472876) because no control set genotyped on the AFFY_6.0 chip was available, since the MGS2 control set was already used with other MDD case samples. Many of the QI cases in the MDD2000AFFY contributed to the PGC-MDD publication since they were genotyped also on an Illumina platform. There are plans to include the VU and ED cases in the second PGC-MDD study.

Selected publications
Diseases/Traits Related to Study (MESH terms)
Links to Related Resources
Authorized Data Access Requests
Study Attribution
  • Principal Investigator
    • Patrick F. Sullivan. University of North Carolina, Chapel Hill, NC, USA
  • Funding Source
    • RFA-MH-08-120. National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA