Trait: substance dependence

Trait Information
Identifier MONDO_0004938
Description The psychological or physiological need to take a substance in order to experience its effects or to avoid the effects of its absence. [NCIT: P378]
Trait category
Other disease
Synonym dependence
Child trait(s) 2 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 PGS for child terms of "substance dependence" in the EFO hierarchy.
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)
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
PGS018961
(TPMI_317.1_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Alcoholism alcohol dependence 15
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018961/ScoringFiles/PGS018961.txt.gz
PGS018962
(TPMI_317.1_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Alcoholism alcohol dependence 939,838
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018962/ScoringFiles/PGS018962.txt.gz
PGS018963
(TPMI_317.1_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Alcoholism alcohol dependence 25,361
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018963/ScoringFiles/PGS018963.txt.gz
PGS018964
(TPMI_317.1_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Alcoholism alcohol dependence 983,785
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018964/ScoringFiles/PGS018964.txt.gz
PGS018965
(TPMI_317.1_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Alcoholism alcohol dependence 1,013,582
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018965/ScoringFiles/PGS018965.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
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 —
PPM022466 PGS002037
(portability-ldpred2_318)
 PSS011952|
European Ancestry|
15,780 individuals
 PGP000717 |
Venkateswaran V et al. Transl Psychiatry (2024)
|Ext.		 Reported Trait: Tobacco use disorder OR: 1.2 [1.16, 1.24] — — — —
PPM022467 PGS002037
(portability-ldpred2_318)
 PSS011953|
East Asian Ancestry|
2,377 individuals
 PGP000717 |
Venkateswaran V et al. Transl Psychiatry (2024)
|Ext.		 Reported Trait: Tobacco use disorder OR: 1.19 [1.11, 1.28] — — — —
PPM022468 PGS002037
(portability-ldpred2_318)
 PSS011954|
Hispanic or Latin American Ancestry|
4,412 individuals
 PGP000717 |
Venkateswaran V et al. Transl Psychiatry (2024)
|Ext.		 Reported Trait: Tobacco use disorder OR: 1.18 [1.06, 1.31] — — — —
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] — —
PPM037143 PGS018961
(TPMI_317.1_Lassosum2)
 PSS012859|
East Asian Ancestry|
19,503 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Alcoholism — AUROC: 0.79678 R²: 0.03346 sex, age, array, PCs 1-10 —
PPM037144 PGS018962
(TPMI_317.1_LDpred2)
 PSS012858|
East Asian Ancestry|
19,503 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Alcoholism — AUROC: 0.79624 R²: 0.03318 sex, age, array, PCs 1-10 —
PPM037145 PGS018963
(TPMI_317.1_MegaPRS)
 PSS012860|
East Asian Ancestry|
19,503 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Alcoholism — AUROC: 0.78241 R²: 0.02968 sex, age, array, PCs 1-10 —
PPM037146 PGS018964
(TPMI_317.1_PRS-CS)
 PSS012861|
East Asian Ancestry|
19,503 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Alcoholism — AUROC: 0.81585 R²: 0.03723 sex, age, array, PCs 1-10 —
PPM037147 PGS018965
(TPMI_317.1_SBayesR)
 PSS012862|
East Asian Ancestry|
19,503 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Alcoholism — AUROC: 0.79751 R²: 0.03342 sex, age, array, PCs 1-10 —

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 —
PSS011952 — — 15,780 individuals — European — UCLA T1
PSS011953 — — 2,377 individuals — East Asian — UCLA T1
PSS011954 — — 4,412 individuals — Hispanic or Latin American — UCLA T1
PSS012858 291.1, 291.2, 291.3, 291.81, 305.0, 357.5, 535.3, 571.0, 571.1, 571.2, 571.3, V11.3,F10.1, F10.230, F10.232, F10.239, F10.251, F10.26, F10.27, F10.951, F10.96, F10.97, G62.1, K29.2, K70 —
[
  • 156 cases
  • , 19,347 controls
]
,
45.18 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012859 291.1, 291.2, 291.3, 291.81, 305.0, 357.5, 535.3, 571.0, 571.1, 571.2, 571.3, V11.3,F10.1, F10.230, F10.232, F10.239, F10.251, F10.26, F10.27, F10.951, F10.96, F10.97, G62.1, K29.2, K70 —
[
  • 156 cases
  • , 19,347 controls
]
,
45.18 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012860 291.1, 291.2, 291.3, 291.81, 305.0, 357.5, 535.3, 571.0, 571.1, 571.2, 571.3, V11.3,F10.1, F10.230, F10.232, F10.239, F10.251, F10.26, F10.27, F10.951, F10.96, F10.97, G62.1, K29.2, K70 —
[
  • 156 cases
  • , 19,347 controls
]
,
45.18 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012861 291.1, 291.2, 291.3, 291.81, 305.0, 357.5, 535.3, 571.0, 571.1, 571.2, 571.3, V11.3,F10.1, F10.230, F10.232, F10.239, F10.251, F10.26, F10.27, F10.951, F10.96, F10.97, G62.1, K29.2, K70 —
[
  • 156 cases
  • , 19,347 controls
]
,
45.18 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012862 291.1, 291.2, 291.3, 291.81, 305.0, 357.5, 535.3, 571.0, 571.1, 571.2, 571.3, V11.3,F10.1, F10.230, F10.232, F10.239, F10.251, F10.26, F10.27, F10.951, F10.96, F10.97, G62.1, K29.2, K70 —
[
  • 156 cases
  • , 19,347 controls
]
,
45.18 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
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 —
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 —