Polygenic Score (PGS) ID: PGS000770

Predicted Trait
Reported Trait Body mass index (BMI)
Mapped Trait(s) body mass index (EFO_0004340)
Released in PGS Catalog: May 28, 2021
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Score Details

Score Construction
PGS Name PRS231
Development Method
Name Genome-wide significant SNPs, SNPs with suggestive evidence of association
Parameters Genome-wide = p<5e-8, suggestive = p<1e-6
Variants
Original Genome Build NCBI36
Number of Variants 231
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000177
Citation (link to publication) de Toro-Martín J et al. Front Genet (2019)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 76.8%
East Asian: 15.2%
African: 5.7%
Additional Asian Ancestries: 1%
South Asian: 0.6%
Hispanic or Latin American: 0.5%
Multi-ancestry (excluding European): 0.3%
  • South Asian
  • Additional Asian Ancestries
  • East Asian
884,136 individuals (100%)
Score Development/Training
European: 100%
704 individuals (100%)
PGS Evaluation
European: 100%
2 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST000840
Europe PMC: 20966902
 1,780 individuals South East Asian CLHNS
GWAS Catalog: GCST000090
Europe PMC: 17903300
 1,341 individuals European FHS
GWAS Catalog: GCST002021
Europe PMC: 23669352
 13,627 individuals European 10 cohorts
  • B58C
  • ,EGCUT
  • ,ERF
  • ,FHS
  • ,GENEVA-DCS
  • ,HPFS
  • ,NHS
  • ,PLCO
  • ,SHIP
  • ,SardiNIA
GWAS Catalog: GCST000512
Europe PMC: 19851299
 3,925 individuals European CROATIA-VIS, ERF, MICROS, NSPHS, ORCADES
GWAS Catalog: GCST000642
Europe PMC: 20397748
 11,536 individuals European ATR
GWAS Catalog: GCST000185
Europe PMC: 18454148
 16,876 individuals European 6 cohorts
  • B58C
  • ,CoLaus
  • ,EPIC-Obesity
  • ,UKBS
  • ,WTCCC
  • ,WTCCC_CAD
GWAS Catalog: GCST002301
Europe PMC: 24348519
 2,860 individuals European CCHMC, CHB
GWAS Catalog: GCST001125
Europe PMC: 21701570
 1,715 individuals African American or Afro-Caribbean WFSM
GWAS Catalog: GCST001416
Europe PMC: 22344221
 26,620 individuals East Asian BBJ
GWAS Catalog: GCST002571
Europe PMC: 25133637
 5,354 individuals South Asian BEST, HEALS
GWAS Catalog: GCST000830
Europe PMC: 20935630
 123,865 individuals European 44 cohorts
  • ADVANCE
  • ,AGES
  • ,ARIC
  • ,B58C
  • ,BRIGHT
  • ,CAPS
  • ,CHS
  • ,CROATIA-VIS
  • ,CoLaus
  • ,DGI
  • ,EGCUT
  • ,EPIC-Obesity
  • ,ERF
  • ,FHS
  • ,FTC
  • ,FUSION
  • ,FamHS
  • ,Fenland
  • ,GENMETS
  • ,GerMIFS
  • ,HAPI
  • ,KORA
  • ,MICROS
  • ,MIGen
  • ,NESDA
  • ,NFBC
  • ,NHS
  • ,NSPHS
  • ,NTR
  • ,ORCADES
  • ,PLCO
  • ,PROCARDIS
  • ,RS
  • ,RUNMC
  • ,SASBAC
  • ,SEARCH
  • ,SHIP
  • ,SardiNIA
  • ,TwinsUK
  • ,UKBS
  • ,UKOPS
  • ,WTCCC
  • ,WTCCC_CAD
  • ,deCODE
GWAS Catalog: GCST000296
Europe PMC: 19079260
 72,598 individuals European JH-SFHS, NBCS, NBS, RUNMC, deCODE
GWAS Catalog: GCST000296
Europe PMC: 19079260
 1,160 individuals African American or Afro-Caribbean JH-SFHS, NBCS, NBS, RUNMC, deCODE
GWAS Catalog: GCST000298
Europe PMC: 19079261
 32,387 individuals European
(Italy)		 12 cohorts
  • B58C
  • ,CoLaus
  • ,DGI
  • ,EPIC-Obesity
  • ,FUSION
  • ,KORA
  • ,NHS
  • ,PLCO
  • ,SardiNIA
  • ,UKBS
  • ,WTCCC
  • ,WTCCC_CAD
GWAS Catalog: GCST002435
Europe PMC: 24827717
 597 individuals East Asian NR
GWAS Catalog: GCST001676
Europe PMC: 22982992
 133,154 individuals European 35 cohorts
  • AGES
  • ,AMISH
  • ,ARIC
  • ,B58C
  • ,BSN
  • ,CAPS
  • ,CROATIA-KORCULA
  • ,CROATIA-SPLIT
  • ,CROATIA-VIS
  • ,CoLaus
  • ,DGI
  • ,EPIC
  • ,FUSION
  • ,FamHS
  • ,Fenland
  • ,FinGesture
  • ,HYPERGENES
  • ,LifeLines
  • ,MICROS
  • ,MIGen
  • ,NBS
  • ,NESDA
  • ,NFBC
  • ,NTR
  • ,ORCADES
  • ,PLCO
  • ,QIMR
  • ,RS
  • ,RUNMC
  • ,SASBAC
  • ,SEARCH
  • ,SORBS
  • ,WGHS
  • ,WTCCC
  • ,deCODE
GWAS Catalog: GCST001955
Europe PMC: 23563607
 16,068 individuals European 49 cohorts
  • ADVANCE
  • ,AGES
  • ,ARIC
  • ,B58C
  • ,BRIGHT
  • ,CAPS
  • ,CHS
  • ,COROGENE
  • ,CROATIA-VIS
  • ,CoLaus
  • ,DGI
  • ,EGCUT
  • ,EPIC-Obesity
  • ,ERF
  • ,FHS
  • ,FUSION
  • ,FamHS
  • ,Fenland
  • ,GENMETS
  • ,GOOD
  • ,GerMIFS
  • ,HBCS
  • ,KORA
  • ,MGS
  • ,MICROS
  • ,MIGen
  • ,NESDA
  • ,NFBC
  • ,NHS
  • ,NSPHS
  • ,NTR
  • ,ORCADES
  • ,PLCO
  • ,PROCARDIS
  • ,RS
  • ,RUNMC
  • ,SASBAC
  • ,SEARCH
  • ,SHIP
  • ,SORBS
  • ,SardiNIA
  • ,TwinsUK
  • ,UKBS
  • ,UKOPS
  • ,WGHS
  • ,WTCCC
  • ,WTCCC_CAD
  • ,YFS
  • ,deCODE
GWAS Catalog: GCST002783
Europe PMC: 25673413
 887 individuals African American or Afro-Caribbean NR
GWAS Catalog: GCST002783
Europe PMC: 25673413
 1,276 individuals Hispanic or Latin American NR
GWAS Catalog: GCST002783
Europe PMC: 25673413
 236,781 individuals European NR
GWAS Catalog: GCST001967
Europe PMC: 23583978
 37,956 individuals African American or Afro-Caribbean 19 cohorts
  • AABC
  • ,AAPC
  • ,ARIC
  • ,BioVU
  • ,CARDIA
  • ,CFS
  • ,CHS
  • ,FamHS
  • ,GENOA
  • ,HANDLS
  • ,HUFS
  • ,HYPERGENES
  • ,HealthABC
  • ,JHS
  • ,MESA
  • ,Maywood
  • ,Nigeria
  • ,WFSM
  • ,WHI-SHARe
GWAS Catalog: GCST001967
Europe PMC: 23583978
 1,188 individuals Sub-Saharan African 19 cohorts
  • AABC
  • ,AAPC
  • ,ARIC
  • ,BioVU
  • ,CARDIA
  • ,CFS
  • ,CHS
  • ,FamHS
  • ,GENOA
  • ,HANDLS
  • ,HUFS
  • ,HYPERGENES
  • ,HealthABC
  • ,JHS
  • ,MESA
  • ,Maywood
  • ,Nigeria
  • ,WFSM
  • ,WHI-SHARe
GWAS Catalog: GCST002227
Europe PMC: 24064335
 8,463 individuals European 6 cohorts
  • COS
  • ,FHS
  • ,IFS
  • ,KCOS
  • ,OOS
  • ,WHI
GWAS Catalog: GCST002227
Europe PMC: 24064335
 7,478 individuals African American or Afro-Caribbean 6 cohorts
  • COS
  • ,FHS
  • ,IFS
  • ,KCOS
  • ,OOS
  • ,WHI
GWAS Catalog: GCST002227
Europe PMC: 24064335
 3,348 individuals Hispanic or Latin American 6 cohorts
  • COS
  • ,FHS
  • ,IFS
  • ,KCOS
  • ,OOS
  • ,WHI
GWAS Catalog: GCST002227
Europe PMC: 24064335
 1,624 individuals East Asian 6 cohorts
  • COS
  • ,FHS
  • ,IFS
  • ,KCOS
  • ,OOS
  • ,WHI
GWAS Catalog: GCST001448
Europe PMC: 22446040
 5,218 individuals European FUSION, Marshfield, SAGE
GWAS Catalog: GCST002461
Europe PMC: 24861553
 82,438 individuals East Asian 21 cohorts
  • CAGE
  • ,CLHNS
  • ,CRC
  • ,DFTJ
  • ,FAMHES
  • ,GenSalt
  • ,HEXA
  • ,Health2
  • ,KARE
  • ,KCPS
  • ,MESA
  • ,NHAPC
  • ,RIKEN
  • ,Rural
  • ,SDCS
  • ,SGWAS
  • ,SIH
  • ,SIMES
  • ,SP2
  • ,TGWAS
  • ,TUDR
GWAS Catalog: GCST002461
Europe PMC: 24861553
 4,301 individuals South East Asian 21 cohorts
  • CAGE
  • ,CLHNS
  • ,CRC
  • ,DFTJ
  • ,FAMHES
  • ,GenSalt
  • ,HEXA
  • ,Health2
  • ,KARE
  • ,KCPS
  • ,MESA
  • ,NHAPC
  • ,RIKEN
  • ,Rural
  • ,SDCS
  • ,SGWAS
  • ,SIH
  • ,SIMES
  • ,SP2
  • ,TGWAS
  • ,TUDR
GWAS Catalog: GCST001415
Europe PMC: 22344219
 22,762 individuals East Asian 8 cohorts
  • CAGE
  • ,CRC
  • ,KARE
  • ,SDCS
  • ,SGWAS
  • ,SIMES
  • ,SP2
  • ,TGWAS
GWAS Catalog: GCST001415
Europe PMC: 22344219
 2,522 individuals South East Asian 8 cohorts
  • CAGE
  • ,CRC
  • ,KARE
  • ,SDCS
  • ,SGWAS
  • ,SIMES
  • ,SP2
  • ,TGWAS
GWAS Catalog: GCST001415
Europe PMC: 22344219
 2,431 individuals South Asian, South East Asian, East Asian 8 cohorts
  • CAGE
  • ,CRC
  • ,KARE
  • ,SDCS
  • ,SGWAS
  • ,SIMES
  • ,SP2
  • ,TGWAS
Score Development/Training
Study Identifiers Sample Numbers Sample Ancestry Cohort(s) Phenotype Definitions & Methods Age of Study Participants Participant Follow-up Time Additional Ancestry Description Additional Sample/Cohort Information
—
[
  • 196 cases
  • , 508 controls
]
,
43.04 % Male samples
 European
(French-Canadian)		 QFS Cases were individuals defined as obese (BMI ≥ 30kg/m2) — — — —

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) 		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
PPM001987 PSS000992|
European Ancestry|
177 individuals
 PGP000177 |
de Toro-Martín J et al. Front Genet (2019)
 Reported Trait: Obesity — — Odds Ratio (OR_Trend): 1.19 [1.06, 1.33] Age, sex, random effect (family relatedness) —
PPM001988 PSS000991|
European Ancestry|
141 individuals
 PGP000177 |
de Toro-Martín J et al. Front Genet (2019)
 Reported Trait: Obesity — — Odds Ratio (OR_Trend): 1.12 [1.01, 1.25] Age, sex, random effect (family relatedness) —
PPM001989 PSS000992|
European Ancestry|
177 individuals
 PGP000177 |
de Toro-Martín J et al. Front Genet (2019)
 Reported Trait: Obesity prevalence — AUROC: 0.661 — Bootstrapping (n=1000) —
PPM001990 PSS000991|
European Ancestry|
141 individuals
 PGP000177 |
de Toro-Martín J et al. Front Genet (2019)
 Reported Trait: Obesity prevalence — AUROC: 0.619 — Bootstrapping (n=1000) —
PPM001991 PSS000992|
European Ancestry|
177 individuals
 PGP000177 |
de Toro-Martín J et al. Front Genet (2019)
 Reported Trait: Obesity prevalence — AUROC: 0.127 [0.04, 0.22] — Age, sex, bootstrapping (n=1000) —
PPM001992 PSS000992|
European Ancestry|
177 individuals
 PGP000177 |
de Toro-Martín J et al. Front Genet (2019)
 Reported Trait: Obesity prevalence — — Odds Ratio (OR, top 20% vs bottom 20%): 4.77 [1.54, 16.99] Age, sex, random effect (family relatedness) —
PPM001993 PSS000992|
European Ancestry|
177 individuals
 PGP000177 |
de Toro-Martín J et al. Front Genet (2019)
 Reported Trait: Obesity prevalence — — Odds Ratio (OR, middle 40-60% vs bottom 20%): 3.46 [1.11, 12.31] Age, sex, random effect (family relatedness) —
PPM001994 PSS000991|
European Ancestry|
141 individuals
 PGP000177 |
de Toro-Martín J et al. Front Genet (2019)
 Reported Trait: Obesity prevalence — — Odds Ratio (OR, middle 60-80% vs bottom 20%): 3.79 [1.07, 15.86] Age, sex, random effect (family relatedness) —
PPM001995 PSS000992|
European Ancestry|
177 individuals
 PGP000177 |
de Toro-Martín J et al. Front Genet (2019)
 Reported Trait: Body mass index β: 0.33 — R²: 0.032 Sex, age —

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
PSS000991 Cases were individuals defined as obese (BMI ≥ 30kg/m2) —
[
  • 39 cases
  • , 102 controls
]
,
48.23 % Male samples
 — European
(French-Canadian)		 — FAS —
PSS000992 Cases were individuals defined as obese (BMI ≥ 30kg/m2) —
[
  • 50 cases
  • , 127 controls
]
,
43.5 % Male samples
 — European
(French-Canadian)		 — QFS —