Trait: substance-related disorder

Trait Information
Identifier MONDO_0002494
Description A category of psychiatric disorders which include disorders related to the taking of a drug of abuse (including alcohol, prescribed medications and recreational drugs). [NCIT: C92203]
Trait category
Other disease
Synonyms 2 synonyms
  • substance induced mood disorders
  • substance-related disorder
Mapped terms 4 mapped terms
  • DOID:303
  • ICD10CM:F10-F19
  • MESH:D019966
  • NCIT:C92203
Child trait(s) 3 child traits

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:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
Note: This table shows all PGS for "substance-related disorder" and any child terms of this trait in the EFO hierarchy by default.
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS000704
(HC171)
 PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
 Alcoholic cirrhosis alcoholic liver cirrhosis 183,271
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000704/ScoringFiles/PGS000704.txt.gz - Check Terms/Licenses
PGS001777
(3-SNP_cirr)
 PGP000258 |
Whitfield JB et al. J Hepatol (2021)
 Cirrhosis (alcohol related) alcoholic liver cirrhosis 3
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001777/ScoringFiles/PGS001777.txt.gz
PGS001830
(portability-PLR_318)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Tobacco use disorder nicotine dependence 13,838
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001830/ScoringFiles/PGS001830.txt.gz
PGS002037
(portability-ldpred2_318)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Tobacco use disorder nicotine dependence 847,691
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002037/ScoringFiles/PGS002037.txt.gz
PGS002738
(PRS_AUD)
 PGP000345 |
Lai D et al. Alcohol Clin Exp Res (2022)
 Alcohol use disorder alcohol dependence 326,000
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002738/ScoringFiles/PGS002738.txt.gz
PGS002739
(PRS_gene)
 PGP000346 |
Lai D et al. Transl Psychiatry (2022)
 Alcohol use disorder alcohol dependence 858
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002739/ScoringFiles/PGS002739.txt.gz
PGS003849
(PRSaddiction-rf)
 PGP000490 |
Hatoum AS et al. Nat Ment Health (2023)
 Addiction risk factors substance-related disorder 584,753
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003849/ScoringFiles/PGS003849.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
PPM001596 PGS000704
(HC171)
 PSS000792|
European Ancestry|
87,413 individuals
 PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
 Reported Trait: Alcoholic cirrhosis — AUROC: 0.55471 — Age, sex, PCs(1-10) —
PPM001607 PGS000704
(HC171)
 PSS000793|
European Ancestry|
135,300 individuals
 PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
 Reported Trait: Alcoholic cirrhosis HR: 1.18 [1.11, 1.27] C-index: 0.711 — Age as time scale, sex, batch, PCs(1-10) —
PPM009254 PGS001777
(3-SNP_cirr)
 PSS007668|
European Ancestry|
1,766 individuals
 PGP000258 |
Whitfield JB et al. J Hepatol (2021)
 Reported Trait: Cirrhosis (females) β: 0.897 (0.172) AUROC: 0.635 (0.025) Odds Ratio (OR, top 20% vs bottom 20%): 3.81 [2.05, 7.07] — —
PPM009255 PGS001777
(3-SNP_cirr)
 PSS007669|
European Ancestry|
6,898 individuals
 PGP000258 |
Whitfield JB et al. J Hepatol (2021)
 Reported Trait: Cirrhosis (males) β: 0.8 (0.088) AUROC: 0.635 (0.016) Odds Ratio (OR, top 20% vs bottom 20%): 3.44 [2.48, 4.77] — —
PPM009256 PGS001777
(3-SNP_cirr)
 PSS007669|
European Ancestry|
6,898 individuals
 PGP000258 |
Whitfield JB et al. J Hepatol (2021)
 Reported Trait: Cirrhosis (females) — AUROC: 0.554 (0.036) Odds Ratio (OR, top 20% vs bottom 20%): 2.08 [1.11, 3.89] — —
PPM009247 PGS001777
(3-SNP_cirr)
 PSS007667|
European Ancestry|
1,390 individuals
 PGP000258 |
Whitfield JB et al. J Hepatol (2021)
 Reported Trait: Cirrhosis β: 1.092 (0.099) AUROC: 0.665 (0.014) Odds Ratio (OR, top 20% vs bottom 20%): 5.99 [4.18, 8.6] — —
PPM009248 PGS001777
(3-SNP_cirr)
 PSS007668|
European Ancestry|
1,766 individuals
 PGP000258 |
Whitfield JB et al. J Hepatol (2021)
 Reported Trait: Cirrhosis β: 0.669 (0.09) AUROC: 0.606 (0.014) Odds Ratio (OR, top 20% vs bottom 20%): 2.81 [2.03, 3.89] — —
PPM009249 PGS001777
(3-SNP_cirr)
 PSS007669|
European Ancestry|
6,898 individuals
 PGP000258 |
Whitfield JB et al. J Hepatol (2021)
 Reported Trait: Cirrhosis β: 0.729 (0.08) AUROC: 0.619 (0.014) Odds Ratio (OR, top 20% vs bottom 20%): 3.1 [2.32, 4.14] — —
PPM009250 PGS001777
(3-SNP_cirr)
 PSS007669|
European Ancestry|
6,898 individuals
 PGP000258 |
Whitfield JB et al. J Hepatol (2021)
 Reported Trait: Cirrhosis β: 0.748 (0.073) AUROC: 0.636 (0.015) Odds Ratio (OR, top 20% vs bottom 20%): 3.37 [2.38, 4.78] BMI, coffee —
PPM009251 PGS001777
(3-SNP_cirr)
 PSS007667|
European Ancestry|
1,390 individuals
 PGP000258 |
Whitfield JB et al. J Hepatol (2021)
 Reported Trait: Cirrhosis (males) β: 1.132 (0.116) AUROC: 0.671 (0.016) Odds Ratio (OR, top 20% vs bottom 20%): 6.18 [4.05, 9.41] — —
PPM009252 PGS001777
(3-SNP_cirr)
 PSS007667|
European Ancestry|
1,390 individuals
 PGP000258 |
Whitfield JB et al. J Hepatol (2021)
 Reported Trait: Cirrhosis (females) β: 0.974 (0.192) AUROC: 0.65 (0.027) Odds Ratio (OR, top 20% vs bottom 20%): 5.4 [2.67, 10.92] — —
PPM009253 PGS001777
(3-SNP_cirr)
 PSS007668|
European Ancestry|
1,766 individuals
 PGP000258 |
Whitfield JB et al. J Hepatol (2021)
 Reported Trait: Cirrhosis (males) β: 0.575 (0.107) AUROC: 0.592 (0.017) Odds Ratio (OR, top 20% vs bottom 20%): 2.47 [1.68, 3.62] — —
PPM009257 PGS001777
(3-SNP_cirr)
 PSS007667|
European Ancestry|
1,390 individuals
 PGP000258 |
Whitfield JB et al. J Hepatol (2021)
 Reported Trait: Cirrhosis in diabetics — — Odds Ratio (OR, high vs. low PRS): 5.32 [2.06, 13.7] — PRS Thresholds: Low (<= 0), High( >0.70)
PPM009258 PGS001777
(3-SNP_cirr)
 PSS007667|
European Ancestry|
1,390 individuals
 PGP000258 |
Whitfield JB et al. J Hepatol (2021)
 Reported Trait: Cirrhosis in non-diabetics — — Odds Ratio (OR, high vs. low PRS): 4.77 [3.45, 6.58] — PRS Thresholds: Low (<= 0), High( >0.70)
PPM009259 PGS001777
(3-SNP_cirr)
 PSS007669|
European Ancestry|
6,898 individuals
 PGP000258 |
Whitfield JB et al. J Hepatol (2021)
 Reported Trait: Cirrhosis in diabetics — — Odds Ratio (OR, high vs. low PRS): 3.74 [2.16, 6.48] — PRS Thresholds: Low (<= 0), High( >0.70)
PPM009260 PGS001777
(3-SNP_cirr)
 PSS007669|
European Ancestry|
6,898 individuals
 PGP000258 |
Whitfield JB et al. J Hepatol (2021)
 Reported Trait: Cirrhosis in non-diabetics — — Odds Ratio (OR, high vs. low PRS): 2.37 [1.86, 3.03] — PRS Thresholds: Low (<= 0), High( >0.70)
PPM009533 PGS001830
(portability-PLR_318)
 PSS009300|
European Ancestry|
19,400 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Tobacco use disorder — — Partial Correlation (partial-r): 0.0557 [0.0416, 0.0697] sex, age, birth date, deprivation index, 16 PCs —
PPM009534 PGS001830
(portability-PLR_318)
 PSS009074|
European Ancestry|
4,022 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Tobacco use disorder — — Partial Correlation (partial-r): 0.0092 [-0.0218, 0.0401] sex, age, birth date, deprivation index, 16 PCs —
PPM009535 PGS001830
(portability-PLR_318)
 PSS008628|
European Ancestry|
6,548 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Tobacco use disorder — — Partial Correlation (partial-r): 0.0603 [0.0361, 0.0845] sex, age, birth date, deprivation index, 16 PCs —
PPM009536 PGS001830
(portability-PLR_318)
 PSS008402|
Greater Middle Eastern Ancestry|
1,180 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Tobacco use disorder — — Partial Correlation (partial-r): 0.0076 [-0.05, 0.0651] sex, age, birth date, deprivation index, 16 PCs —
PPM009537 PGS001830
(portability-PLR_318)
 PSS008182|
South Asian Ancestry|
6,249 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Tobacco use disorder — — Partial Correlation (partial-r): 0.0361 [0.0113, 0.0609] sex, age, birth date, deprivation index, 16 PCs —
PPM009538 PGS001830
(portability-PLR_318)
 PSS007967|
East Asian Ancestry|
1,800 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Tobacco use disorder — — Partial Correlation (partial-r): 0.0404 [-0.0061, 0.0867] sex, age, birth date, deprivation index, 16 PCs —
PPM009539 PGS001830
(portability-PLR_318)
 PSS007748|
African Ancestry|
2,445 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Tobacco use disorder — — Partial Correlation (partial-r): -0.0084 [-0.0482, 0.0314] sex, age, birth date, deprivation index, 16 PCs —
PPM009540 PGS001830
(portability-PLR_318)
 PSS008852|
African Ancestry|
3,876 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Tobacco use disorder — — Partial Correlation (partial-r): 0.0032 [-0.0284, 0.0347] sex, age, birth date, deprivation index, 16 PCs —
PPM011163 PGS002037
(portability-ldpred2_318)
 PSS009300|
European Ancestry|
19,400 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Tobacco use disorder — — Partial Correlation (partial-r): 0.0741 [0.0601, 0.0881] sex, age, birth date, deprivation index, 16 PCs —
PPM011164 PGS002037
(portability-ldpred2_318)
 PSS009074|
European Ancestry|
4,022 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Tobacco use disorder — — Partial Correlation (partial-r): 0.0253 [-0.0056, 0.0563] sex, age, birth date, deprivation index, 16 PCs —
PPM011166 PGS002037
(portability-ldpred2_318)
 PSS008402|
Greater Middle Eastern Ancestry|
1,180 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Tobacco use disorder — — Partial Correlation (partial-r): 0.043 [-0.0146, 0.1003] sex, age, birth date, deprivation index, 16 PCs —
PPM011167 PGS002037
(portability-ldpred2_318)
 PSS008182|
South Asian Ancestry|
6,249 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Tobacco use disorder — — Partial Correlation (partial-r): 0.0598 [0.035, 0.0845] sex, age, birth date, deprivation index, 16 PCs —
PPM011168 PGS002037
(portability-ldpred2_318)
 PSS007967|
East Asian Ancestry|
1,800 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Tobacco use disorder — — Partial Correlation (partial-r): 0.0244 [-0.0221, 0.0708] sex, age, birth date, deprivation index, 16 PCs —
PPM011169 PGS002037
(portability-ldpred2_318)
 PSS007748|
African Ancestry|
2,445 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Tobacco use disorder — — Partial Correlation (partial-r): 0.0244 [-0.0154, 0.0642] sex, age, birth date, deprivation index, 16 PCs —
PPM011170 PGS002037
(portability-ldpred2_318)
 PSS008852|
African Ancestry|
3,876 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Tobacco use disorder — — Partial Correlation (partial-r): -0.0199 [-0.0514, 0.0117] sex, age, birth date, deprivation index, 16 PCs —
PPM011165 PGS002037
(portability-ldpred2_318)
 PSS008628|
European Ancestry|
6,548 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Tobacco use disorder — — Partial Correlation (partial-r): 0.0812 [0.0571, 0.1053] sex, age, birth date, deprivation index, 16 PCs —
PPM014841 PGS002738
(PRS_AUD)
 PSS009911|
European Ancestry|
7,900 individuals
 PGP000345 |
Lai D et al. Alcohol Clin Exp Res (2022)
 Reported Trait: Alcohol use disorder β: 3.17 (1.87) — Odds Ratio (OR top 10% vs rest): 1.96 [1.54, 2.51] — —
PPM014839 PGS002738
(PRS_AUD)
 PSS009910|
European Ancestry|
2,722 individuals
 PGP000345 |
Lai D et al. Alcohol Clin Exp Res (2022)
 Reported Trait: Alcohol use disorder (AUD) in individuals with unknown family history of AUD β: 2.91 (0.38) — Odds Ratio (OR top 10% vs rest): 1.5 [0.98, 2.29] — —
PPM014838 PGS002738
(PRS_AUD)
 PSS009909|
European Ancestry|
4,842 individuals
 PGP000345 |
Lai D et al. Alcohol Clin Exp Res (2022)
 Reported Trait: Alcohol use disorder (AUD) in individuals with family history of AUD β: 2.43 (0.6) — Odds Ratio (OR top 10% vs rest): 1.86 [1.35, 2.56] — —
PPM014840 PGS002738
(PRS_AUD)
 PSS009908|
European Ancestry|
336 individuals
 PGP000345 |
Lai D et al. Alcohol Clin Exp Res (2022)
 Reported Trait: Alcohol use disorder (AUD) in individuals without family history of AUD β: 2.64 (0.47) — Odds Ratio (OR top 10% vs rest): 0.45 [0.12, 1.69] — —
PPM014842 PGS002739
(PRS_gene)
 PSS009912|
African Ancestry|
6,315 individuals
 PGP000346 |
Lai D et al. Transl Psychiatry (2022)
 Reported Trait: Alcohol use disorder β: 0.17 (0.03) — Odds Ratio (OR top 10% vs rest): 1.76 [1.32, 2.34] — —
PPM018660 PGS003849
(PRSaddiction-rf)
 PSS011056|
European Ancestry|
1,986 individuals
 PGP000490 |
Hatoum AS et al. Nat Ment Health (2023)
 Reported Trait: Cocaine Use Disorder OR: 1.569
β: 0.451 (0.058)		 — — First 10 principal components, age, and sex —
PPM018657 PGS003849
(PRSaddiction-rf)
 PSS011056|
European Ancestry|
1,986 individuals
 PGP000490 |
Hatoum AS et al. Nat Ment Health (2023)
 Reported Trait: Tobacco Use Disorder OR: 1.643
β: 0.497 (0.054)		 — — First 10 principal components, age, and sex —
PPM018658 PGS003849
(PRSaddiction-rf)
 PSS011056|
European Ancestry|
1,986 individuals
 PGP000490 |
Hatoum AS et al. Nat Ment Health (2023)
 Reported Trait: Opioid Use Disorder OR: 1.728
β: 0.5471 (0.062)		 — — First 10 principal components, age, and sex —
PPM018661 PGS003849
(PRSaddiction-rf)
 PSS011056|
European Ancestry|
1,986 individuals
 PGP000490 |
Hatoum AS et al. Nat Ment Health (2023)
 Reported Trait: Any Addiction OR: 1.633
β: 0.49 (0.052)		 — — First 10 principal components, age, and sex —
PPM018663 PGS003849
(PRSaddiction-rf)
 PSS011056|
European Ancestry|
1,986 individuals
 PGP000490 |
Hatoum AS et al. Nat Ment Health (2023)
 Reported Trait: Polysubstance use (2 or more) vs. Single substance use OR: 1.445
β: 0.368 (0.082)		 — — First 10 principal components, age, and sex —
PPM018656 PGS003849
(PRSaddiction-rf)
 PSS011056|
European Ancestry|
1,986 individuals
 PGP000490 |
Hatoum AS et al. Nat Ment Health (2023)
 Reported Trait: Alcohol Use Disorder OR: 1.57
β: 0.451 (0.052)		 — — First 10 principal components, age, and sex —
PPM018659 PGS003849
(PRSaddiction-rf)
 PSS011056|
European Ancestry|
1,986 individuals
 PGP000490 |
Hatoum AS et al. Nat Ment Health (2023)
 Reported Trait: Cannabis Use Disorder OR: 1.413
β: 0.3455 (0.057)		 — — First 10 principal components, age, and sex —
PPM018662 PGS003849
(PRSaddiction-rf)
 PSS011056|
European Ancestry|
1,986 individuals
 PGP000490 |
Hatoum AS et al. Nat Ment Health (2023)
 Reported Trait: Polysubstance use (2 or more) vs. no polysubstance use OR: 1.721
β: 0.5427 (0.055)		 — — First 10 principal components, age, and sex —

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
PSS007748 — — 2,445 individuals — African American or Afro-Caribbean Carribean UKB —
PSS008402 — — 1,180 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS009300 — — 19,400 individuals — European UK (+ Ireland) UKB —
PSS009074 — — 4,022 individuals — European Poland (NE Europe) UKB —
PSS008182 — — 6,249 individuals — South Asian India (South Asia) UKB —
PSS011056 — — 1,986 individuals — European — Yale-Penn —
PSS007667 — —
[
  • 917 cases
  • , 473 controls
]
,
72.3 % Male samples
 — European — GenomALC —
PSS007668 — —
[
  • 1,162 cases
  • , 604 controls
]
,
62.06 % Male samples
 — European — GenomALC —
PSS007669 — —
[
  • 594 cases
  • , 6,304 controls
]
,
77.02 % Male samples
 — European — UKB —
PSS008852 — — 3,876 individuals — African unspecified Nigeria (West Africa) UKB —
PSS007967 — — 1,800 individuals — East Asian China (East Asia) UKB —
PSS008628 — — 6,548 individuals — European Italy (South Europe) UKB —
PSS000792 — — 87,413 individuals — European — UKB —
PSS000793 ICD-10 K70 —
[
  • 845 cases
  • , 134,455 controls
]
 — European
(Finnish)		 — FinnGen —
PSS009908 — —
[
  • 72 cases
  • , 107 controls
]
 — European — COGA —
PSS009909 — —
[
  • 2,531 cases
  • , 669 controls
]
 — European — COGA —
PSS009910 — —
[
  • 850 cases
  • , 840 controls
]
 — European — COGA —
PSS009911 — —
[
  • 3,451 cases
  • , 1,616 controls
]
,
48.0 % Male samples
 — European — COGA —
PSS009912 — —
[
  • 2,786 cases
  • , 3,529 controls
]
 — African American or Afro-Caribbean — COGA, SAGE, Yale-Penn —