Trait: major depressive disorder

Trait Information
Identifier MONDO_0002009
Description An episode of depression lasting two or more weeks without an intervening episode of mania. [NCIT: P378]
Trait category
Neurological disorder
Synonyms 2 synonyms
  • recurrent major depression
  • single major depressive episode
Mapped term(s) 12 mapped terms
  • DOID:1470
  • ICD10:F32
  • ICD10:F32.9
  • ICD10:F33
  • ICD10:F33.9
  • ICD9:296.2
  • ICD9:296.20
  • ICD9:296.3
  • ICD9:296.30
  • MESH:D003865
  • MFOMD:0000143
  • SCTID:370143000

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
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Multi-ancestry (excluding European)
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Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution PGS Scoring File (FTP Link)
PGS000138
(LifetimeMDD)
PGP000068 |
Cai N et al. Nat Genet (2020)
Lifetime Major Depressive Disorder major depressive disorder 22,274
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000138/ScoringFiles/PGS000138.txt.gz
PGS000139
(MDDRecur)
PGP000068 |
Cai N et al. Nat Genet (2020)
Lifetime Major Depressive Disorder (with recurrence) major depressive disorder,
recurrent
21,980
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000139/ScoringFiles/PGS000139.txt.gz
PGS000145
(ICD10Dep)
PGP000068 |
Cai N et al. Nat Genet (2020)
Depression (ICD-10 defined) major depressive disorder 21,510
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000145/ScoringFiles/PGS000145.txt.gz
PGS000193
(MDD_0.001_Coleman_2020)
PGS000080 |
Coleman JRI et al. Mol Psychiatry (2020)
Major depression major depressive disorder 1,138
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000193/ScoringFiles/PGS000193.txt.gz

Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

PGS Performance
Metric ID (PPM)
Evaluated Score PGS Sample Set ID
(PSS)
Performance Source Trait PGS Effect Sizes
(per SD change)
Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM000430 PGS000138
(LifetimeMDD)
PSS000250|
European Ancestry|
36,709 individuals
PGP000068 |
Cai N et al. Nat Genet (2020)
Reported Trait: Major Depressive Disorder status AUROC: 0.5611 : 0.01817 Cohort
PPM000431 PGS000139
(MDDRecur)
PSS000250|
European Ancestry|
36,709 individuals
PGP000068 |
Cai N et al. Nat Genet (2020)
Reported Trait: Major Depressive Disorder status AUROC: 0.54874 : 0.01097 Cohort
PPM000437 PGS000145
(ICD10Dep)
PSS000250|
European Ancestry|
36,709 individuals
PGP000068 |
Cai N et al. Nat Genet (2020)
Reported Trait: Major Depressive Disorder status AUROC: 0.5251 : 0.0032 Cohort
PPM000564 PGS000193
(MDD_0.001_Coleman_2020)
PSS000294|
European Ancestry|
92,957 individuals
PGS000080 |
Coleman JRI et al. Mol Psychiatry (2020)
Reported Trait: Major depressive disorder OR: 1.179 : 0.01485
Nagelkerke pseudo-R2 (increase when adding PRS to null model of covariates): 0.00785
batch, centre, genomic prinicipal components (x6)

Evaluated Samples

PGS Sample Set ID
(PSS)
Phenotype Definitions and Methods Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS000250
[
  • 14,696 cases
  • , 22,013 controls
]
European 15 cohorts
  • BOMA
  • ,CoLaus
  • ,Edinburgh
  • ,GenPOD
  • ,GenRED
  • ,MARS
  • ,MPIP
  • ,NESDA
  • ,QIMR
  • ,RADIANT
  • ,RS
  • ,SHIP
  • ,STAR*D
  • ,TwinGene
  • ,i2b2
Part of PGC29 (PMID: 29700475)
PSS000294 Participants completed an online follow-up questionnaire assessing common mental health disorders, including MDD symptoms. Phenotypes were derived from this questionnaire. Individuals with probable MDD met lifetime criteria based on their responses to questions derived from the Composite International Diagnostic Interview. We excluded cases if they self-reported diagnoses of schizophrenia, other psychoses, or bipolar disorder. Controls were excluded if they self-reported any mental illness, taking any drug with an antidepressant indication, or had been hospitalised with a mood disorder or met previously-defined criteria for a mood disorder.
[
  • 29,475 cases
  • , 63,482 controls
]
,
45.0 % Male samples
Range = [46.0, 80.0] years European UKB