Trait: celiac disease

Information

Experimental Factor Ontology ID: EFO_0001060

EFO Trait 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]

Associated PGS

PGS 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 (PPM) ID Evaluated Score PGS Catalog Sample Set (PSS) ID Performance Source Trait PGS Effect Sizes
(per SD change)
PGS Classification Metrics Other Metrics Covariates Included in PGS Model PGS Performance: Other Relevant Information
PPM000093 PGS000040 (GRS_CeD) PSS000059 Abraham G et al. (2014) Reported Trait: Coeliac disease AUROC: 0.9
PPM000094 PGS000040 (GRS_CeD) PSS000061 Abraham G et al. (2014) Reported Trait: Coeliac disease AUROC: 0.87
PPM000095 PGS000040 (GRS_CeD) PSS000062 Abraham G et al. (2014) Reported Trait: Coeliac disease AUROC: 0.86
PPM000096 PGS000040 (GRS_CeD) PSS000063 Abraham G et al. (2014) Reported Trait: Coeliac disease AUROC: 0.87
PPM000097 PGS000040 (GRS_CeD) PSS000060 Abraham G et al. (2014) Reported Trait: Coeliac disease AUROC: 0.87
PPM000098 PGS000040 (GRS_CeD) PSS000064 Abraham G et al. (2015) Ext. Reported Trait: Coeliac disease AUROC: 0.831 [0.808 - 0.85]
PPM000099 PGS000040 (GRS_CeD) PSS000065 Abraham G et al. (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 Abraham G et al. (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 Abraham G et al. (2015) Reported Trait: Coeliac disease in HLA-DQ2.5 carriers AUROC: 0.73 [0.687 - 0.772]

Evaluated Samples

PGS Catalog Sample Set (PSS) ID Detailed Phenotype Description (e.g. ICD/SNOMED codes used to identify cases) Sample Numbers Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS000059 2,476 individuals
[ 647 cases, 1,829 controls]
European
(Finnish)
FINRISK, Health 2000
PSS000060 10,304 individuals
[ 5,907 cases, 4,397 controls]
European
(British)
Immunochip
PSS000061 1,040 individuals
[ 497 cases, 543 controls]
European
(Italian)
PSS000062 1,649 individuals
[ 803 cases, 846 controls]
European
(Dutch)
PSS000063 2,200 individuals
[ 778 cases, 1,422 controls]
European
(British)
PSS000064 1,696 individuals
[ 1,259 cases, 437 controls]
European NIDDK
PSS000065 The HLA-DQ2.5-positive subset of NIDDK-CIDR 1,237 individuals
[ 1,094 cases, 143 controls]
European NIDDK HLA alleles were imputed using SNP2HLA