Trait: celiac disease

Experimental Factor Ontology (EFO) Information
Identifier EFO_0001060
Description An autoimmune genetic disorder with an unknown pattern of inheritance that primarily affects the digestive tract. It is caused by intolerance to dietary gluten. Consumption of gluten protein triggers an immune response which damages small intestinal villi and prevents adequate absorption of nutrients. Clinical signs include abdominal cramping, diarrhea or constipation and weight loss. If untreated, the clinical course may progress to malnutrition, anemia, osteoporosis and an increased risk of intestinal malignancies. However, the prognosis is favorable with successful avoidance of gluten in the diet. [NCIT: C26714]
Trait categories
Digestive system disorder
Immune system disorder
Synonyms 49 synonyms
  • CD - Celiac disease
  • CD - Coeliac disease
  • CELIAC DIS
  • CS - Celiac sprue
  • CS - Coeliac sprue
  • Celiac Sprue
  • Celiac disease (disorder)
  • Celiac disease NOS
  • Celiac disease NOS (disorder)
  • Celiac rickets
  • Celiac rickets (disorder)
  • Celiac syndrome
  • Coeliac disease
  • Coeliac disease NOS
  • Coeliac disease [Ambiguous]
  • Coeliac rickets
  • Coeliac sprue
  • Coeliac syndrome
  • Disease, Celiac
  • Enteropathies, Gluten
  • Enteropathies, Gluten-Sensitive
  • Enteropathy, Gluten
  • Enteropathy, Gluten-Sensitive
  • GSE - Gluten-sensitive enteropathy
  • Gluten Enteropathies
  • Gluten Sensitive Enteropathy
  • Gluten enteropathy
  • Gluten-Induced Enteropathy
  • Gluten-Sensitive Enteropathies
  • Gluten-Sensitive Enteropathy
  • Gluten-induced enteropathy syndrome
  • Gluten-responsive sprue
  • Idiopathic steatorrhea
  • Idiopathic steatorrhoea
  • Non Tropical Sprue
  • Non-tropical sprue
  • Nontropical Sprue
  • Sprue
  • Sprue, Celiac
  • Sprue, Nontropical
  • Steatorrhoea - idiopathic
  • Wheat-sensitive enteropathy
  • celiac disease
  • celiac sprue
  • coeliac sprue
  • gluten intolerance
  • gluten-induced enteropathy
  • idiopathic steatorrhea
  • non tropical sprue
Mapped terms 18 mapped terms
  • DOID:10608
  • ICD10CM:K90.0
  • ICD9:579.0
  • MESH:D002446
  • MONDO:0005130
  • MeSH:D002446
  • MedDRA:10007864
  • NCIT:C26714
  • NCIt:C26714
  • OMIM:212750
  • OMIM:609753
  • OMIM:609755
  • OMIM:612011
  • OMIMPS:212750
  • Orphanet:555
  • SCTID:396331005
  • SNOMEDCT:396331005
  • UMLS:C0007570

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
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution Scoring File (FTP Link)
PGS000040
(GRS_CeD)
PGP000028 |
Abraham G et al. PLoS Genet (2014)
Coeliac disease celiac disease 228
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000040/ScoringFiles/PGS000040.txt.gz
PGS000041
(GRS-DQ2.5-CeD)
PGP000029 |
Abraham G et al. Genome Med (2015)
Coeliac disease celiac disease 2,513
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000041/ScoringFiles/PGS000041.txt.gz
PGS000042
(GRS-DQ2.5-CeD-imputed)
PGP000029 |
Abraham G et al. Genome Med (2015)
Coeliac disease celiac disease 3,317
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000042/ScoringFiles/PGS000042.txt.gz
PGS000316
(GRS42_Coeliac)
PGP000093 |
Sharp SA et al. Aliment Pharmacol Ther (2020)
Coeliac disease celiac disease 42
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000316/ScoringFiles/PGS000316.txt.gz
PGS001300
(GBE_BIN21068)
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Celiac disease or gluten sensitivity, diagnosed celiac disease 9
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001300/ScoringFiles/PGS001300.txt.gz
PGS001301
(GBE_HC303)
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Malabsorption/coeliac disease celiac disease 428
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001301/ScoringFiles/PGS001301.txt.gz
PGS001856
(portability-PLR_557.1)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Celiac disease celiac disease 1,661
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001856/ScoringFiles/PGS001856.txt.gz
PGS001894
(portability-PLR_celiac_gluten)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Diagnosed with coeliac disease or gluten sensitivity celiac disease 484
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001894/ScoringFiles/PGS001894.txt.gz
PGS002067
(portability-ldpred2_557.1)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Celiac disease celiac disease 58,231
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002067/ScoringFiles/PGS002067.txt.gz
PGS002107
(portability-ldpred2_celiac_gluten)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Diagnosed with coeliac disease or gluten sensitivity celiac disease 39,066
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002107/ScoringFiles/PGS002107.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
PPM000093 PGS000040
(GRS_CeD)
PSS000059|
European Ancestry|
2,476 individuals
PGP000028 |
Abraham G et al. PLoS Genet (2014)
Reported Trait: Coeliac disease AUROC: 0.9
PPM000094 PGS000040
(GRS_CeD)
PSS000061|
European Ancestry|
1,040 individuals
PGP000028 |
Abraham G et al. PLoS Genet (2014)
Reported Trait: Coeliac disease AUROC: 0.87
PPM000095 PGS000040
(GRS_CeD)
PSS000062|
European Ancestry|
1,649 individuals
PGP000028 |
Abraham G et al. PLoS Genet (2014)
Reported Trait: Coeliac disease AUROC: 0.86
PPM000096 PGS000040
(GRS_CeD)
PSS000063|
European Ancestry|
2,200 individuals
PGP000028 |
Abraham G et al. PLoS Genet (2014)
Reported Trait: Coeliac disease AUROC: 0.87
PPM000097 PGS000040
(GRS_CeD)
PSS000060|
European Ancestry|
10,304 individuals
PGP000028 |
Abraham G et al. PLoS Genet (2014)
Reported Trait: Coeliac disease AUROC: 0.87
PPM000098 PGS000040
(GRS_CeD)
PSS000064|
European Ancestry|
1,696 individuals
PGP000029 |
Abraham G et al. Genome Med (2015)
|Ext.
Reported Trait: Coeliac disease AUROC: 0.831 [0.808, 0.85]
PPM000099 PGS000040
(GRS_CeD)
PSS000065|
European Ancestry|
1,237 individuals
PGP000029 |
Abraham G et al. Genome Med (2015)
|Ext.
Reported Trait: Coeliac disease in HLA-DQ2.5 carriers AUROC: 0.669 [0.625, 0.713]
PPM000100 PGS000041
(GRS-DQ2.5-CeD)
PSS000065|
European Ancestry|
1,237 individuals
PGP000029 |
Abraham G et al. Genome Med (2015)
Reported Trait: Coeliac disease in HLA-DQ2.5 carriers AUROC: 0.718 [0.676, 0.761]
PPM000101 PGS000042
(GRS-DQ2.5-CeD-imputed)
PSS000065|
European Ancestry|
1,237 individuals
PGP000029 |
Abraham G et al. Genome Med (2015)
Reported Trait: Coeliac disease in HLA-DQ2.5 carriers AUROC: 0.73 [0.687, 0.772]
PPM000805 PGS000316
(GRS42_Coeliac)
PSS000381|
Ancestry Not Reported|
154 individuals
PGP000093 |
Sharp SA et al. Aliment Pharmacol Ther (2020)
Reported Trait: Coeliac disease AUROC: 0.835 [0.76, 0.911]
PPM000804 PGS000316
(GRS42_Coeliac)
PSS000382|
European Ancestry|
379,767 individuals
PGP000093 |
Sharp SA et al. Aliment Pharmacol Ther (2020)
Reported Trait: Coeliac disease AUROC: 0.879 [0.87, 0.888]
PPM008997 PGS001300
(GBE_BIN21068)
PSS003667|
African Ancestry|
969 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Diagnosed with coeliac disease or gluten sensitivity AUROC: 0.77521 [0.67165, 0.87877] : 0.10494
Incremental AUROC (full-covars): 0.00391
PGS R2 (no covariates): 0.00465
PGS AUROC (no covariates): 0.54048 [0.39518, 0.68579]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008998 PGS001300
(GBE_BIN21068)
PSS003668|
European Ancestry|
9,024 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Diagnosed with coeliac disease or gluten sensitivity AUROC: 0.67118 [0.63561, 0.70676] : 0.04801
Incremental AUROC (full-covars): 0.03638
PGS R2 (no covariates): 0.02217
PGS AUROC (no covariates): 0.58541 [0.54195, 0.62888]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008999 PGS001300
(GBE_BIN21068)
PSS003669|
South Asian Ancestry|
1,145 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Diagnosed with coeliac disease or gluten sensitivity AUROC: 0.78803 [0.69728, 0.87878] : 0.09336
Incremental AUROC (full-covars): 0.00365
PGS R2 (no covariates): 0.00127
PGS AUROC (no covariates): 0.56184 [0.43287, 0.6908]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009000 PGS001300
(GBE_BIN21068)
PSS003670|
European Ancestry|
24,310 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Diagnosed with coeliac disease or gluten sensitivity AUROC: 0.6734 [0.64935, 0.69745] : 0.04185
Incremental AUROC (full-covars): 0.08398
PGS R2 (no covariates): 0.02957
PGS AUROC (no covariates): 0.62888 [0.60094, 0.65683]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009001 PGS001301
(GBE_HC303)
PSS004423|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Malabsorption/coeliac disease AUROC: 0.84259 [0.73437, 0.95081] : 0.12308
Incremental AUROC (full-covars): 0.02463
PGS R2 (no covariates): 0.03018
PGS AUROC (no covariates): 0.68151 [0.48835, 0.87467]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009002 PGS001301
(GBE_HC303)
PSS004424|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Malabsorption/coeliac disease AUROC: 0.81472 [0.7798, 0.84965] : 0.15108
Incremental AUROC (full-covars): 0.1791
PGS R2 (no covariates): 0.14221
PGS AUROC (no covariates): 0.80994 [0.77441, 0.84547]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009003 PGS001301
(GBE_HC303)
PSS004425|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Malabsorption/coeliac disease AUROC: 0.81699 [0.73267, 0.9013] : 0.11397
Incremental AUROC (full-covars): 0.06035
PGS R2 (no covariates): 0.07098
PGS AUROC (no covariates): 0.76239 [0.65258, 0.87221]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009004 PGS001301
(GBE_HC303)
PSS004426|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Malabsorption/coeliac disease AUROC: 0.83351 [0.81372, 0.85329] : 0.14905
Incremental AUROC (full-covars): 0.25775
PGS R2 (no covariates): 0.14224
PGS AUROC (no covariates): 0.82867 [0.80826, 0.84908]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009738 PGS001856
(portability-PLR_557.1)
PSS009331|
European Ancestry|
16,106 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Celiac disease Partial Correlation (partial-r): 0.1196 [0.1043, 0.1348] sex, age, birth date, deprivation index, 16 PCs
PPM009739 PGS001856
(portability-PLR_557.1)
PSS009105|
European Ancestry|
3,509 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Celiac disease Partial Correlation (partial-r): 0.0779 [0.0448, 0.1108] sex, age, birth date, deprivation index, 16 PCs
PPM009740 PGS001856
(portability-PLR_557.1)
PSS008659|
European Ancestry|
5,445 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Celiac disease Partial Correlation (partial-r): 0.097 [0.0706, 0.1233] sex, age, birth date, deprivation index, 16 PCs
PPM009741 PGS001856
(portability-PLR_557.1)
PSS008433|
Greater Middle Eastern Ancestry|
998 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Celiac disease Partial Correlation (partial-r): 0.0652 [0.0025, 0.1273] sex, age, birth date, deprivation index, 16 PCs
PPM009742 PGS001856
(portability-PLR_557.1)
PSS008213|
South Asian Ancestry|
5,277 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Celiac disease Partial Correlation (partial-r): 0.0535 [0.0265, 0.0805] sex, age, birth date, deprivation index, 16 PCs
PPM009743 PGS001856
(portability-PLR_557.1)
PSS007778|
African Ancestry|
2,091 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Celiac disease Partial Correlation (partial-r): 0.0261 [-0.017, 0.0691] sex, age, birth date, deprivation index, 16 PCs
PPM009744 PGS001856
(portability-PLR_557.1)
PSS008882|
African Ancestry|
3,455 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Celiac disease Partial Correlation (partial-r): 0.028 [-0.0054, 0.0614] sex, age, birth date, deprivation index, 16 PCs
PPM010037 PGS001894
(portability-PLR_celiac_gluten)
PSS009164|
European Ancestry|
1,354 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Diagnosed with coeliac disease or gluten sensitivity Partial Correlation (partial-r): 0.0796 [0.026, 0.1327] sex, age, birth date, deprivation index, 16 PCs
PPM010038 PGS001894
(portability-PLR_celiac_gluten)
PSS008718|
European Ancestry|
2,442 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Diagnosed with coeliac disease or gluten sensitivity Partial Correlation (partial-r): 0.0358 [-0.0041, 0.0755] sex, age, birth date, deprivation index, 16 PCs
PPM010039 PGS001894
(portability-PLR_celiac_gluten)
PSS008492|
Greater Middle Eastern Ancestry|
208 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Diagnosed with coeliac disease or gluten sensitivity Partial Correlation (partial-r): 0.0295 [-0.1141, 0.1719] sex, age, birth date, deprivation index, 16 PCs
PPM010040 PGS001894
(portability-PLR_celiac_gluten)
PSS008270|
South Asian Ancestry|
908 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Diagnosed with coeliac disease or gluten sensitivity Partial Correlation (partial-r): 0.0219 [-0.0439, 0.0876] sex, age, birth date, deprivation index, 16 PCs
PPM010041 PGS001894
(portability-PLR_celiac_gluten)
PSS007834|
African Ancestry|
400 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Diagnosed with coeliac disease or gluten sensitivity Partial Correlation (partial-r): -0.0127 [-0.1132, 0.088] sex, age, birth date, deprivation index, 16 PCs
PPM010042 PGS001894
(portability-PLR_celiac_gluten)
PSS008938|
African Ancestry|
526 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Diagnosed with coeliac disease or gluten sensitivity Partial Correlation (partial-r): 0.0162 [-0.0711, 0.1032] sex, age, birth date, deprivation index, 16 PCs
PPM010036 PGS001894
(portability-PLR_celiac_gluten)
PSS009390|
European Ancestry|
7,142 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Diagnosed with coeliac disease or gluten sensitivity Partial Correlation (partial-r): 0.0993 [0.0763, 0.1223] sex, age, birth date, deprivation index, 16 PCs
PPM011398 PGS002067
(portability-ldpred2_557.1)
PSS009331|
European Ancestry|
16,106 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Celiac disease Partial Correlation (partial-r): 0.1241 [0.1088, 0.1393] sex, age, birth date, deprivation index, 16 PCs
PPM011400 PGS002067
(portability-ldpred2_557.1)
PSS008659|
European Ancestry|
5,445 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Celiac disease Partial Correlation (partial-r): 0.0979 [0.0714, 0.1242] sex, age, birth date, deprivation index, 16 PCs
PPM011401 PGS002067
(portability-ldpred2_557.1)
PSS008433|
Greater Middle Eastern Ancestry|
998 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Celiac disease Partial Correlation (partial-r): 0.0718 [0.0092, 0.1339] sex, age, birth date, deprivation index, 16 PCs
PPM011402 PGS002067
(portability-ldpred2_557.1)
PSS008213|
South Asian Ancestry|
5,277 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Celiac disease Partial Correlation (partial-r): 0.0512 [0.0242, 0.0781] sex, age, birth date, deprivation index, 16 PCs
PPM011403 PGS002067
(portability-ldpred2_557.1)
PSS007778|
African Ancestry|
2,091 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Celiac disease Partial Correlation (partial-r): 0.0094 [-0.0337, 0.0525] sex, age, birth date, deprivation index, 16 PCs
PPM011404 PGS002067
(portability-ldpred2_557.1)
PSS008882|
African Ancestry|
3,455 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Celiac disease Partial Correlation (partial-r): 0.0241 [-0.0093, 0.0575] sex, age, birth date, deprivation index, 16 PCs
PPM011399 PGS002067
(portability-ldpred2_557.1)
PSS009105|
European Ancestry|
3,509 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Celiac disease Partial Correlation (partial-r): 0.0695 [0.0364, 0.1024] sex, age, birth date, deprivation index, 16 PCs
PPM011712 PGS002107
(portability-ldpred2_celiac_gluten)
PSS009390|
European Ancestry|
7,142 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Diagnosed with coeliac disease or gluten sensitivity Partial Correlation (partial-r): 0.0964 [0.0733, 0.1193] sex, age, birth date, deprivation index, 16 PCs
PPM011713 PGS002107
(portability-ldpred2_celiac_gluten)
PSS009164|
European Ancestry|
1,354 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Diagnosed with coeliac disease or gluten sensitivity Partial Correlation (partial-r): 0.0848 [0.0313, 0.1379] sex, age, birth date, deprivation index, 16 PCs
PPM011714 PGS002107
(portability-ldpred2_celiac_gluten)
PSS008718|
European Ancestry|
2,442 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Diagnosed with coeliac disease or gluten sensitivity Partial Correlation (partial-r): 0.041 [0.0012, 0.0807] sex, age, birth date, deprivation index, 16 PCs
PPM011715 PGS002107
(portability-ldpred2_celiac_gluten)
PSS008492|
Greater Middle Eastern Ancestry|
208 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Diagnosed with coeliac disease or gluten sensitivity Partial Correlation (partial-r): 0.0206 [-0.1229, 0.1632] sex, age, birth date, deprivation index, 16 PCs
PPM011716 PGS002107
(portability-ldpred2_celiac_gluten)
PSS008270|
South Asian Ancestry|
908 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Diagnosed with coeliac disease or gluten sensitivity Partial Correlation (partial-r): 0.0237 [-0.0422, 0.0893] sex, age, birth date, deprivation index, 16 PCs
PPM011717 PGS002107
(portability-ldpred2_celiac_gluten)
PSS007834|
African Ancestry|
400 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Diagnosed with coeliac disease or gluten sensitivity Partial Correlation (partial-r): -0.0242 [-0.1245, 0.0766] sex, age, birth date, deprivation index, 16 PCs
PPM011718 PGS002107
(portability-ldpred2_celiac_gluten)
PSS008938|
African Ancestry|
526 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Diagnosed with coeliac disease or gluten sensitivity Partial Correlation (partial-r): 0.0172 [-0.0701, 0.1042] 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
PSS009164 1,354 individuals European Poland (NE Europe) UKB
PSS008270 908 individuals South Asian India (South Asia) UKB
PSS004423
[
  • 7 cases
  • , 6,490 controls
]
African unspecified UKB
PSS004424
[
  • 178 cases
  • , 24,727 controls
]
European non-white British ancestry UKB
PSS004425
[
  • 24 cases
  • , 7,807 controls
]
South Asian UKB
PSS004426
[
  • 451 cases
  • , 66,974 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS008659 5,445 individuals European Italy (South Europe) UKB
PSS003667
[
  • 18 cases
  • , 951 controls
]
African unspecified UKB
PSS003668
[
  • 213 cases
  • , 8,811 controls
]
European non-white British ancestry UKB
PSS003669
[
  • 16 cases
  • , 1,129 controls
]
South Asian UKB
PSS003670
[
  • 468 cases
  • , 23,842 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS007778 2,091 individuals African American or Afro-Caribbean Carribean UKB
PSS008938 526 individuals African unspecified Nigeria (West Africa) UKB
PSS008433 998 individuals Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB
PSS009331 16,106 individuals European UK (+ Ireland) UKB
PSS000381 Control subjects (n = 40) were paediatric general gastroenterology patients whom were negative for coeliac disease by both intestinal biopsy and negative tissue transglutaminase serology.
[
  • 0 cases
  • , 40 controls
]
,
48.0 % Male samples
Mean = 4.9 years
Sd = 4.0 years
NR STOLLERY_CC
PSS000381 Diagnosis of coeliac disease was made by a modification of European serological diagnostic guidelines for patients referred to a tertiary paediatric clinic in Alberta, Canada, for consideration of coeliac disease diagnosis
[
  • 63 cases
  • , 0 controls
]
,
63.0 % Male samples
Mean = 8.6 years
Sd = 3.9 years
NR STOLLERY_CC
PSS000381 Diagnosis of coeliac disease was made by endoscopy for patients referred to a tertiary paediatric clinic in Alberta, Canada, for consideration of coeliac disease diagnosis
[
  • 51 cases
  • , 0 controls
]
,
57.0 % Male samples
Mean = 7.5 years
Sd = 3.8 years
NR STOLLERY_CC
PSS000382 Coeliac disease cases were identified using either hospital admission code and/or self‐reported coeliac disease.
[
  • 1,237 cases
  • , 378,530 controls
]
European UKB
PSS008718 2,442 individuals European Italy (South Europe) UKB
PSS009105 3,509 individuals European Poland (NE Europe) UKB
PSS008213 5,277 individuals South Asian India (South Asia) UKB
PSS000059
[
  • 647 cases
  • , 1,829 controls
]
European
(Finnish)
FINRISK, Health2000
PSS000060
[
  • 5,907 cases
  • , 4,397 controls
]
European
(British)
NR Immunochip
PSS000061
[
  • 497 cases
  • , 543 controls
]
European
(Italian)
NR
PSS000062
[
  • 803 cases
  • , 846 controls
]
European
(Dutch)
NR
PSS000063
[
  • 778 cases
  • , 1,422 controls
]
European
(British)
NR
PSS007834 400 individuals African American or Afro-Caribbean Carribean UKB
PSS000064
[
  • 1,259 cases
  • , 437 controls
]
European NIDDK
PSS000065 The HLA-DQ2.5-positive subset of NIDDK-CIDR
[
  • 1,094 cases
  • , 143 controls
]
European NIDDK HLA alleles were imputed using SNP2HLA
PSS008492 208 individuals Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB
PSS009390 7,142 individuals European UK (+ Ireland) UKB
PSS008882 3,455 individuals African unspecified Nigeria (West Africa) UKB