Trait: inflammatory bowel disease

Experimental Factor Ontology (EFO) Information
Identifier EFO_0003767
Description A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. [NCIT: C3138]
Trait categories
Digestive system disorder
Immune system disorder
Synonyms 6 synonyms
  • Bowel Diseases, Inflammatory
  • IBD
  • INFLAMM BOWEL DIS
  • Inflammatory Bowel Diseases
  • autoimmune bowel disorder
  • inflammatory bowel disease
Mapped terms 21 mapped terms
  • DOID:0050589
  • ICD9:558.9
  • KEGG:05321
  • MESH:D015212
  • MONDO:0005265
  • MeSH:D015212
  • MedDRA:10021184
  • MedDRA:10021972
  • NCIT:C3138
  • NCIt:C3138
  • OMIM:608448
  • OMIM:611081
  • OMIM:612244
  • OMIM:612245
  • OMIM:612261
  • OMIM:612278
  • OMIM:618077
  • OMIMPS:266600
  • SCTID:24526004
  • SNOMEDCT:24526004
  • UMLS:C0021390
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 "inflammatory bowel disease" 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 Scoring File (FTP Link)
PGS000017
(GPS_IBD)
 PGP000006 |
Khera AV et al. Nat Genet (2018)
 Inflammatory bowel disease inflammatory bowel disease 6,907,112
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000017/ScoringFiles/PGS000017.txt.gz - Check Terms/Licenses
PGS001288
(GBE_HC95)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Inflammatory bowel disease inflammatory bowel disease 195
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001288/ScoringFiles/PGS001288.txt.gz
PGS001306
(GBE_HC201)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Ulcerative colitis ulcerative colitis 179
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001306/ScoringFiles/PGS001306.txt.gz
PGS001307
(GBE_HC1102)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Ulcerative colitis (time-to-event) ulcerative colitis 809
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001307/ScoringFiles/PGS001307.txt.gz
PGS001330
(GBE_HC1101)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Crohn's disease [regional enteritis] (time-to-event) Crohn's disease 220
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001330/ScoringFiles/PGS001330.txt.gz
PGS001331
(GBE_HC322)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Crohns disease Crohn's disease 257
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001331/ScoringFiles/PGS001331.txt.gz
PGS001369
(GBE_HC1090)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Acute appendicitis (time-to-event) appendicitis 4
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001369/ScoringFiles/PGS001369.txt.gz
PGS001785
(1kgeur_gbmi_leaveUKBBout_AcApp_pst_eff_a1_b0.5_phiauto)
 PGP000262 |
Wang Y et al. Cell Genom (2023)
 Acute appendicitis appendicitis 911,334
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001785/ScoringFiles/PGS001785.txt.gz
PGS001855
(portability-PLR_555.2)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Ulcerative colitis ulcerative colitis 1,505
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001855/ScoringFiles/PGS001855.txt.gz
PGS002066
(portability-ldpred2_555.2)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Ulcerative colitis ulcerative colitis 566,637
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002066/ScoringFiles/PGS002066.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
PPM000026 PGS000017
(GPS_IBD)
 PSS000016|
European Ancestry|
288,978 individuals
 PGP000006 |
Khera AV et al. Nat Genet (2018)
 Reported Trait: Inflammatory bowel disease — AUROC: 0.63 [0.62, 0.64] Nagelkerke’s R2 (estimate of variance explained by the PGS after covariate adjustment): 0.021 age; sex; Ancestry PC 1-4; genotyping chip —
PPM012874 PGS000017
(GPS_IBD)
 PSS009588|
European Ancestry|
1,433 individuals
 PGP000288 |
Garcia-Etxebarria K et al. Sci Rep (2022)
|Ext.		 Reported Trait: Inflammatory Bowel Disease — AUROC: 0.69 [0.66, 0.72] — — —
PPM008938 PGS001288
(GBE_HC95)
 PSS004741|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Inflammatory bowel disease — AUROC: 0.64251 [0.54711, 0.73791] R²: 0.05914
Incremental AUROC (full-covars): 0.00245
PGS R2 (no covariates): 0.00027
PGS AUROC (no covariates): 0.52101 [0.42335, 0.61867]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008939 PGS001288
(GBE_HC95)
 PSS004742|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Inflammatory bowel disease — AUROC: 0.89429 [0.79091, 0.99767] R²: 0.2051
Incremental AUROC (full-covars): -0.0033
PGS R2 (no covariates): 0.0
PGS AUROC (no covariates): 0.48687 [0.28135, 0.6924]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008940 PGS001288
(GBE_HC95)
 PSS004743|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Inflammatory bowel disease — AUROC: 0.63478 [0.60168, 0.66787] R²: 0.02287
Incremental AUROC (full-covars): 0.02492
PGS R2 (no covariates): 0.0102
PGS AUROC (no covariates): 0.58475 [0.55242, 0.61708]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008941 PGS001288
(GBE_HC95)
 PSS004744|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Inflammatory bowel disease — AUROC: 0.66934 [0.62525, 0.71343] R²: 0.03759
Incremental AUROC (full-covars): 0.004
PGS R2 (no covariates): 0.00311
PGS AUROC (no covariates): 0.55448 [0.50125, 0.6077]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008942 PGS001288
(GBE_HC95)
 PSS004745|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Inflammatory bowel disease — AUROC: 0.59461 [0.57544, 0.61378] R²: 0.01221
Incremental AUROC (full-covars): 0.06405
PGS R2 (no covariates): 0.01191
PGS AUROC (no covariates): 0.59586 [0.5768, 0.61492]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009024 PGS001306
(GBE_HC201)
 PSS004339|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Ulcerative colitis — AUROC: 0.62904 [0.5093, 0.74878] R²: 0.04535
Incremental AUROC (full-covars): -0.00864
PGS R2 (no covariates): 0.00044
PGS AUROC (no covariates): 0.51081 [0.37987, 0.64174]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009025 PGS001306
(GBE_HC201)
 PSS004340|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Ulcerative colitis — AUROC: 0.89429 [0.79357, 0.99502] R²: 0.20499
Incremental AUROC (full-covars): -0.0033
PGS R2 (no covariates): 2e-05
PGS AUROC (no covariates): 0.49111 [0.35854, 0.62368]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009026 PGS001306
(GBE_HC201)
 PSS004341|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Ulcerative colitis — AUROC: 0.66162 [0.6277, 0.69554] R²: 0.03336
Incremental AUROC (full-covars): 0.04247
PGS R2 (no covariates): 0.02036
PGS AUROC (no covariates): 0.63006 [0.5958, 0.66432]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009027 PGS001306
(GBE_HC201)
 PSS004342|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Ulcerative colitis — AUROC: 0.67522 [0.62537, 0.72506] R²: 0.03696
Incremental AUROC (full-covars): 0.01011
PGS R2 (no covariates): 0.00545
PGS AUROC (no covariates): 0.56552 [0.50815, 0.62289]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009028 PGS001306
(GBE_HC201)
 PSS004343|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Ulcerative colitis — AUROC: 0.6157 [0.59481, 0.63659] PGS R2 (no covariates): 0.0193
R²: 0.01676
Incremental AUROC (full-covars): 0.08728
PGS AUROC (no covariates): 0.62452 [0.60374, 0.6453]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009029 PGS001307
(GBE_HC1102)
 PSS004119|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE ulcerative colitis — AUROC: 0.62873 [0.51002, 0.74744] R²: 0.04344
Incremental AUROC (full-covars): -0.00895
PGS R2 (no covariates): 0.00027
PGS AUROC (no covariates): 0.50641 [0.39121, 0.62161]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009030 PGS001307
(GBE_HC1102)
 PSS004120|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE ulcerative colitis — AUROC: 0.89582 [0.79576, 0.99588] R²: 0.20607
Incremental AUROC (full-covars): -0.00177
PGS R2 (no covariates): 0.00203
PGS AUROC (no covariates): 0.55433 [0.4473, 0.66136]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009031 PGS001307
(GBE_HC1102)
 PSS004121|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE ulcerative colitis — AUROC: 0.65578 [0.62353, 0.68804] R²: 0.03272
Incremental AUROC (full-covars): 0.04212
PGS R2 (no covariates): 0.0169
PGS AUROC (no covariates): 0.6106 [0.57717, 0.64402]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009032 PGS001307
(GBE_HC1102)
 PSS004122|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE ulcerative colitis — AUROC: 0.66008 [0.61042, 0.70974] R²: 0.03192
Incremental AUROC (full-covars): 0.00203
PGS R2 (no covariates): 0.0036
PGS AUROC (no covariates): 0.55808 [0.506, 0.61016]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009033 PGS001307
(GBE_HC1102)
 PSS004123|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE ulcerative colitis — AUROC: 0.63965 [0.62036, 0.65895] R²: 0.02376
Incremental AUROC (full-covars): 0.1085
PGS R2 (no covariates): 0.02383
PGS AUROC (no covariates): 0.63847 [0.61861, 0.65833]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009137 PGS001330
(GBE_HC1101)
 PSS004114|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE crohn's disease [regional enteritis] — AUROC: 0.66243 [0.55234, 0.77252] R²: 0.05286
Incremental AUROC (full-covars): -0.02175
PGS R2 (no covariates): 0.00138
PGS AUROC (no covariates): 0.46272 [0.36718, 0.55826]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009138 PGS001330
(GBE_HC1101)
 PSS004115|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE crohn's disease [regional enteritis] — AUROC: 0.86369 [0.7806, 0.94678] R²: 0.13339
Incremental AUROC (full-covars): 0.0
PGS R2 (no covariates): 0.14319
PGS AUROC (no covariates): 0.10664 [0.0, 0.28372]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009139 PGS001330
(GBE_HC1101)
 PSS004116|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE crohn's disease [regional enteritis] — AUROC: 0.60269 [0.55209, 0.65328] R²: 0.01102
Incremental AUROC (full-covars): 0.02413
PGS R2 (no covariates): 0.00621
PGS AUROC (no covariates): 0.57593 [0.52318, 0.62867]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009140 PGS001330
(GBE_HC1101)
 PSS004117|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE crohn's disease [regional enteritis] — AUROC: 0.69933 [0.63548, 0.76318] R²: 0.0344
Incremental AUROC (full-covars): 0.00201
PGS R2 (no covariates): 0.00147
PGS AUROC (no covariates): 0.53846 [0.46042, 0.6165]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009141 PGS001330
(GBE_HC1101)
 PSS004118|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE crohn's disease [regional enteritis] — AUROC: 0.55852 [0.52842, 0.58862] R²: 0.00474
Incremental AUROC (full-covars): 0.07412
PGS R2 (no covariates): 0.00669
PGS AUROC (no covariates): 0.5714 [0.54073, 0.60207]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009142 PGS001331
(GBE_HC322)
 PSS004442|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Crohns disease — AUROC: 0.65892 [0.54485, 0.77299] R²: 0.05502
Incremental AUROC (full-covars): -0.02526
PGS R2 (no covariates): 4e-05
PGS AUROC (no covariates): 0.49152 [0.37858, 0.60446]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009143 PGS001331
(GBE_HC322)
 PSS004444|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Crohns disease — AUROC: 0.61269 [0.55802, 0.66736] R²: 0.01161
Incremental AUROC (full-covars): 0.02705
PGS R2 (no covariates): 0.00677
PGS AUROC (no covariates): 0.57919 [0.52051, 0.63786]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009144 PGS001331
(GBE_HC322)
 PSS004445|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Crohns disease — AUROC: 0.71 [0.64649, 0.7735] R²: 0.03928
Incremental AUROC (full-covars): 0.01378
PGS R2 (no covariates): 0.00366
PGS AUROC (no covariates): 0.56349 [0.47905, 0.64793]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009145 PGS001331
(GBE_HC322)
 PSS004446|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Crohns disease — AUROC: 0.56362 [0.53297, 0.59427] R²: 0.00529
Incremental AUROC (full-covars): 0.06267
PGS R2 (no covariates): 0.0063
PGS AUROC (no covariates): 0.57326 [0.54246, 0.60406]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM005205 PGS001369
(GBE_HC1090)
 PSS004099|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE acute appendicitis — AUROC: 0.62041 [0.53518, 0.70564] R²: 0.03016
Incremental AUROC (full-covars): -0.00198
PGS R2 (no covariates): 0.00105
PGS AUROC (no covariates): 0.47489 [0.37525, 0.57453]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM005206 PGS001369
(GBE_HC1090)
 PSS004100|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE acute appendicitis — AUROC: 0.8493 [0.77779, 0.9208] R²: 0.14577
Incremental AUROC (full-covars): 0.00105
PGS R2 (no covariates): 0.00332
PGS AUROC (no covariates): 0.51032 [0.33889, 0.68176]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM005207 PGS001369
(GBE_HC1090)
 PSS004101|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE acute appendicitis — AUROC: 0.56849 [0.52835, 0.60862] R²: 0.00702
Incremental AUROC (full-covars): -0.00219
PGS R2 (no covariates): 0.0
PGS AUROC (no covariates): 0.49616 [0.45378, 0.53854]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM005208 PGS001369
(GBE_HC1090)
 PSS004102|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE acute appendicitis — AUROC: 0.72977 [0.65912, 0.80042] Incremental AUROC (full-covars): 0.00039
PGS R2 (no covariates): 0.00096
R²: 0.05613
PGS AUROC (no covariates): 0.5334 [0.44427, 0.62254]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM005209 PGS001369
(GBE_HC1090)
 PSS004103|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE acute appendicitis — AUROC: 0.57413 [0.55138, 0.59688] R²: 0.00617
Incremental AUROC (full-covars): 0.00987
PGS R2 (no covariates): 0.00332
PGS AUROC (no covariates): 0.55036 [0.52746, 0.57326]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009289 PGS001785
(1kgeur_gbmi_leaveUKBBout_AcApp_pst_eff_a1_b0.5_phiauto)
 PSS007708|
European Ancestry|
359,031 individuals
 PGP000262 |
Wang Y et al. Cell Genom (2023)
 Reported Trait: Acute appendicitis — AUROC: 0.584 Nagelkerke's R2 (covariates regressed out): 0.00406 sex,age,age2,age*sex,age^2*sex, 20PCs —
PPM009730 PGS001855
(portability-PLR_555.2)
 PSS009330|
European Ancestry|
16,188 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Ulcerative colitis — — Partial Correlation (partial-r): 0.0625 [0.0471, 0.0778] sex, age, birth date, deprivation index, 16 PCs —
PPM009732 PGS001855
(portability-PLR_555.2)
 PSS008658|
European Ancestry|
5,477 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Ulcerative colitis — — Partial Correlation (partial-r): 0.0453 [0.0188, 0.0717] sex, age, birth date, deprivation index, 16 PCs —
PPM009733 PGS001855
(portability-PLR_555.2)
 PSS008432|
Greater Middle Eastern Ancestry|
1,007 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Ulcerative colitis — — Partial Correlation (partial-r): 0.0175 [-0.0449, 0.0799] sex, age, birth date, deprivation index, 16 PCs —
PPM009734 PGS001855
(portability-PLR_555.2)
 PSS008212|
South Asian Ancestry|
5,337 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Ulcerative colitis — — Partial Correlation (partial-r): 0.0407 [0.0139, 0.0676] sex, age, birth date, deprivation index, 16 PCs —
PPM009735 PGS001855
(portability-PLR_555.2)
 PSS007994|
East Asian Ancestry|
1,630 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Ulcerative colitis — — Partial Correlation (partial-r): 0.0382 [-0.0107, 0.0868] sex, age, birth date, deprivation index, 16 PCs —
PPM009736 PGS001855
(portability-PLR_555.2)
 PSS007777|
African Ancestry|
2,105 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Ulcerative colitis — — Partial Correlation (partial-r): 0.031 [-0.0119, 0.0738] sex, age, birth date, deprivation index, 16 PCs —
PPM009737 PGS001855
(portability-PLR_555.2)
 PSS008881|
African Ancestry|
3,465 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Ulcerative colitis — — Partial Correlation (partial-r): -0.0003 [-0.0337, 0.0331] sex, age, birth date, deprivation index, 16 PCs —
PPM009731 PGS001855
(portability-PLR_555.2)
 PSS009104|
European Ancestry|
3,520 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Ulcerative colitis — — Partial Correlation (partial-r): 0.0367 [0.0036, 0.0698] sex, age, birth date, deprivation index, 16 PCs —
PPM011390 PGS002066
(portability-ldpred2_555.2)
 PSS009330|
European Ancestry|
16,188 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Ulcerative colitis — — Partial Correlation (partial-r): 0.0641 [0.0487, 0.0794] sex, age, birth date, deprivation index, 16 PCs —
PPM011391 PGS002066
(portability-ldpred2_555.2)
 PSS009104|
European Ancestry|
3,520 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Ulcerative colitis — — Partial Correlation (partial-r): 0.0466 [0.0135, 0.0796] sex, age, birth date, deprivation index, 16 PCs —
PPM011392 PGS002066
(portability-ldpred2_555.2)
 PSS008658|
European Ancestry|
5,477 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Ulcerative colitis — — Partial Correlation (partial-r): 0.0426 [0.0161, 0.0691] sex, age, birth date, deprivation index, 16 PCs —
PPM011393 PGS002066
(portability-ldpred2_555.2)
 PSS008432|
Greater Middle Eastern Ancestry|
1,007 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Ulcerative colitis — — Partial Correlation (partial-r): 0.0056 [-0.0568, 0.068] sex, age, birth date, deprivation index, 16 PCs —
PPM011395 PGS002066
(portability-ldpred2_555.2)
 PSS007994|
East Asian Ancestry|
1,630 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Ulcerative colitis — — Partial Correlation (partial-r): 0.0398 [-0.009, 0.0885] sex, age, birth date, deprivation index, 16 PCs —
PPM011396 PGS002066
(portability-ldpred2_555.2)
 PSS007777|
African Ancestry|
2,105 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Ulcerative colitis — — Partial Correlation (partial-r): 0.0272 [-0.0157, 0.0701] sex, age, birth date, deprivation index, 16 PCs —
PPM011397 PGS002066
(portability-ldpred2_555.2)
 PSS008881|
African Ancestry|
3,465 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Ulcerative colitis — — Partial Correlation (partial-r): 0.0058 [-0.0276, 0.0392] sex, age, birth date, deprivation index, 16 PCs —
PPM011394 PGS002066
(portability-ldpred2_555.2)
 PSS008212|
South Asian Ancestry|
5,337 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Ulcerative colitis — — Partial Correlation (partial-r): 0.0388 [0.0119, 0.0656] sex, age, birth date, deprivation index, 16 PCs —

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
PSS008658 — — 5,477 individuals — European Italy (South Europe) UKB —
PSS007777 — — 2,105 individuals — African American or Afro-Caribbean Carribean UKB —
PSS004442 — —
[
  • 20 cases
  • , 6,477 controls
]
 — African unspecified — UKB —
PSS004444 — —
[
  • 105 cases
  • , 24,800 controls
]
 — European non-white British ancestry UKB —
PSS004445 — —
[
  • 42 cases
  • , 7,789 controls
]
 — South Asian — UKB —
PSS009588 — —
[
  • 498 cases
  • , 935 controls
]
 — European — BV —
PSS004446 — —
[
  • 361 cases
  • , 67,064 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS008432 — — 1,007 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS009330 — — 16,188 individuals — European UK (+ Ireland) UKB —
PSS004339 — —
[
  • 27 cases
  • , 6,470 controls
]
 — African unspecified — UKB —
PSS004340 — —
[
  • 5 cases
  • , 1,699 controls
]
 — East Asian — UKB —
PSS004341 — —
[
  • 239 cases
  • , 24,666 controls
]
 — European non-white British ancestry UKB —
PSS004342 — —
[
  • 103 cases
  • , 7,728 controls
]
 — South Asian — UKB —
PSS004343 — —
[
  • 720 cases
  • , 66,705 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS000016 Inflammatory bowel disease ascertainment was based on report in an interview with a trained nurse, or an ICD-9 code of 555.X or ICD-10 code of K51.X in hospitalization records. —
[
  • 5,853 cases
  • , 283,125 controls
]
 — European — UKB UKB Phase 2
PSS004099 — —
[
  • 35 cases
  • , 6,462 controls
]
 — African unspecified — UKB —
PSS004100 — —
[
  • 9 cases
  • , 1,695 controls
]
 — East Asian — UKB —
PSS004741 — —
[
  • 36 cases
  • , 6,461 controls
]
 — African unspecified — UKB —
PSS004742 — —
[
  • 5 cases
  • , 1,699 controls
]
 — East Asian — UKB —
PSS004743 — —
[
  • 284 cases
  • , 24,621 controls
]
 — European non-white British ancestry UKB —
PSS004744 — —
[
  • 125 cases
  • , 7,706 controls
]
 — South Asian — UKB —
PSS004745 — —
[
  • 892 cases
  • , 66,533 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS004101 — —
[
  • 190 cases
  • , 24,715 controls
]
 — European non-white British ancestry UKB —
PSS004102 — —
[
  • 37 cases
  • , 7,794 controls
]
 — South Asian — UKB —
PSS004103 — —
[
  • 612 cases
  • , 66,813 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS008212 — — 5,337 individuals — South Asian India (South Asia) UKB —
PSS009104 — — 3,520 individuals — European Poland (NE Europe) UKB —
PSS004114 — —
[
  • 20 cases
  • , 6,477 controls
]
 — African unspecified — UKB —
PSS004115 — —
[
  • 2 cases
  • , 1,702 controls
]
 — East Asian — UKB —
PSS004116 — —
[
  • 117 cases
  • , 24,788 controls
]
 — European non-white British ancestry UKB —
PSS004117 — —
[
  • 48 cases
  • , 7,783 controls
]
 — South Asian — UKB —
PSS004118 — —
[
  • 393 cases
  • , 67,032 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS004119 — —
[
  • 27 cases
  • , 6,470 controls
]
 — African unspecified — UKB —
PSS004120 — —
[
  • 5 cases
  • , 1,699 controls
]
 — East Asian — UKB —
PSS004121 — —
[
  • 260 cases
  • , 24,645 controls
]
 — European non-white British ancestry UKB —
PSS004122 — —
[
  • 113 cases
  • , 7,718 controls
]
 — South Asian — UKB —
PSS004123 — —
[
  • 788 cases
  • , 66,637 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS008881 — — 3,465 individuals — African unspecified Nigeria (West Africa) UKB —
PSS007708 — —
[
  • 2,985 cases
  • , 356,045 controls
]
 — European — UKB —
PSS007994 — — 1,630 individuals — East Asian China (East Asia) UKB —