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)

Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Mapped Trait(s) (Ontology) Number of Variants 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

PGS 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 ID) 		Evaluated Score PGS Sample Set ID
(PSS ID) 		Performance Source Trait PGS Effect Sizes
(per SD change) 		PGS Classification Metrics Other Metrics Covariates Included in the Model PGS Performance: Other Relevant Information
PPM000430 PGS000138
(LifetimeMDD)
 PSS000250 PGP000068 Cai N et al. (2020) Reported Trait: Major Depressive Disorder status — AUROC: 0.5611 R²: 0.01817 Cohort —
PPM000431 PGS000139
(MDDRecur)
 PSS000250 PGP000068 Cai N et al. (2020) Reported Trait: Major Depressive Disorder status — AUROC: 0.54874 R²: 0.01097 Cohort —
PPM000437 PGS000145
(ICD10Dep)
 PSS000250 PGP000068 Cai N et al. (2020) Reported Trait: Major Depressive Disorder status — AUROC: 0.5251 R²: 0.0032 Cohort —
PPM000564 PGS000193
(MDD_0.001_Coleman_2020)
 PSS000294 PGS000080 Coleman JRI et al. (2020) Reported Trait: Major depressive disorder OR: 1.179 — R²: 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 ID) 		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 —