Trait: type I diabetes mellitus

Experimental Factor Ontology (EFO) Information
Identifier EFO_0001359
Description A chronic condition characterized by minimal or absent production of insulin by the pancreas. [NCIT: C2986]
Trait category
Digestive system disorder
Immune system disorder
Metabolic disorder
Synonyms 49 synonyms
  • Ketosis-Prone Diabetes Mellitus
  • Diabete, Autoimmune
  • Type I Diabetes
  • Diabetes mellitus type 1 (disorder)
  • Diabetes Mellitus, Type 1
  • Insulin Dependent Diabetes
  • DIABETES MELLITUS TYPE 01
  • DMI UNSPF UNCNTRLD
  • type I diabetes
  • Diabetes Mellitus, Insulin Dependent
  • Autoimmune Diabete
  • insulin-dependent diabetes mellitus
  • Insulin dependent diabetes mellitus
  • Diabetes mellitus type I
  • Diabetes Mellitus, Insulin-Dependent
  • Diabetes Mellitus, Sudden-Onset
  • Juvenile onset diabetes mellitus
  • immune mediated diabetes
  • insulin dependent diabetes
  • Mellitus, Sudden-Onset Diabetes
  • Diabetes Mellitus, Ketosis Prone
  • Diabetes Mellitus, Brittle
  • type I diabetes mellitus
  • diabetes mellitis type I
  • Autoimmune Diabetes
  • IDDM
  • Insulin-Dependent Diabetes Mellitus
  • Diabetes Mellitus, Juvenile Onset
  • IDDM - Insulin-dependent diabetes mellitus
  • Diabetes mellitus type 1
  • Sudden-Onset Diabetes Mellitus
  • Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with unspecified complication
  • Juvenile Diabetes
  • insulin dependent diabetes mellitus
  • diabetes mellitis type 1
  • Diabetes, Autoimmune
  • type 1 diabetes mellitus
  • type 1 diabetes
  • Brittle Diabetes Mellitus
  • Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], uncontrolled, with unspecified complication
  • Diabetes Mellitus, Juvenile-Onset
  • Type 1 Diabetes
  • Diabetes Mellitus, Type I
  • Diabetes Mellitus, Sudden Onset
  • juvenile diabetes
  • Juvenile-Onset Diabetes Mellitus
  • Type 1 Diabetes Mellitus
  • Diabetes Mellitus, Ketosis-Prone
  • DMI UNSPF NT ST UNCNTRLD
Mapped term(s) 21 mapped terms
  • OMIM:600320
  • ICD10:E10
  • NCIT:C2986
  • OMIM:601388
  • KEGG:04940
  • OMIM:601942
  • OMIM:222100
  • SCTID:46635009
  • MESH:D003922
  • OMIM:125852
  • MONDO:0005147
  • OMIM:610155
  • DOID:9744
  • SNOMEDCT:46635009
  • OMIM:612520
  • SNOMEDCT:11530004
  • OMIM:611895
  • OMIM:612522
  • COHD:201254
  • MSH:D003922
  • NCIt:C2986

Associated Polygenic Score(s)

Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Mapped Trait(s) (Ontology) Number of Variants PGS Scoring File (FTP Link)
PGS000021 GRS1 PGP000011
Oram RA et al. Diabetes Care (2015)
Type 1 diabetes type I diabetes mellitus 30 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000021/ScoringFiles/PGS000021.txt.gz
PGS000022 T1D_GRS PGP000012
Perry DJ et al. Sci Rep (2018)
Type 1 diabetes type I diabetes mellitus 37 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000022/ScoringFiles/PGS000022.txt.gz
PGS000023 AA_GRS PGP000013
Onengut-Gumuscu S et al. Diabetes Care (2019)
Type 1 diabetes type I diabetes mellitus 7 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000023/ScoringFiles/PGS000023.txt.gz
PGS000024 GRS2 PGP000014
Sharp SA et al. Diabetes Care (2019)
Type 1 diabetes type I diabetes mellitus 67 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000024/ScoringFiles/PGS000024.txt.gz

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 ID
(PPM ID)
Evaluated Score PGS Sample Set ID
(PSS ID)
Performance Source Trait PGS Effect Sizes
(per SD change)
PGS Classification Metrics Other Metrics Covariates Included in the Model PGS Performance: Other Relevant Information
PPM000753 PGS000024 (GRS2) PSS000368 PGP000091
Ferrat LA et al. (2020)
Ext.
Reported Trait: Type 1 diabetes (5 years horizon time; landmark age 2 years) AUROC: 0.93 autoantibodies, family history
PPM000754 PGS000024 (GRS2) PSS000368 PGP000091
Ferrat LA et al. (2020)
Ext.
Reported Trait: Type 1 diabetes (8 years horizon time; landmark age 2 years) AUROC: 0.87 autoantibodies, family history
PPM000755 PGS000024 (GRS2) PSS000368 PGP000091
Ferrat LA et al. (2020)
Ext.
Reported Trait: Type 1 diabetes (5 years horizon time; landmark age 4 years) AUROC: 0.96 autoantibodies, family history
PPM000132 PGS000021 (GRS1) PSS000083 PGP000038
Patel KA et al. (2016)
Ext.
Reported Trait: Type 1 diabetes aetiology (non-monogenic) AUROC: 0.87[0.86, 0.89] Testing the ability of the GRS to discriminate between two sets of cases: - Positive: individuals with type 1 diabetes - Negative: individuals with diabetes and a maturity-onset diabetes of young (MODY) mutation
PPM000042 PGS000022 (T1D_GRS) PSS000029 PGP000012
Perry DJ et al. (2018)
Reported Trait: Type 1 diabetes AUROC: 0.8508 AUROCs are reported with respect to unrelated-control samples
PPM000043 PGS000022 (T1D_GRS) PSS000028 PGP000012
Perry DJ et al. (2018)
Reported Trait: Type 1 diabetes AUROC: 0.9003 AUROCs are reported with respect to unrelated-control samples
PPM000044 PGS000022 (T1D_GRS) PSS000027 PGP000012
Perry DJ et al. (2018)
Reported Trait: Type 1 diabetes AUROC: 0.7522 AUROCs are reported with respect to unrelated-control samples
PPM000045 PGS000023 (AA_GRS) PSS000030 PGP000013
Onengut-Gumuscu S et al. (2019)
Reported Trait: Type 1 diabetes AUROC: 0.87 NOTE: Evaluated using cross-validation on training samples (20% heldout, 1000 iterations)
PPM000750 PGS000024 (GRS2) PSS000368 PGP000091
Ferrat LA et al. (2020)
Ext.
Reported Trait: Type 1 diabetes (by age 8; landmark age 2 years) AUROC: 0.73[0.7, 0.77]
PPM000751 PGS000024 (GRS2) PSS000368 PGP000091
Ferrat LA et al. (2020)
Ext.
Reported Trait: Type 1 diabetes (1 year horizon time; landmark age 2 years) AUROC: 0.96 autoantibodies, family history
PPM000041 PGS000021 (GRS1) PSS000026 PGP000011
Oram RA et al. (2015)
Reported Trait: Severe insulin deficiency AUROC: 0.96[0.94, 0.99] AUROC (without covariates): 0.87 islet auto-antibody status, body mass index (BMI), age at diagnosis
PPM000046 PGS000021 (GRS1) PSS000030 PGP000013
Onengut-Gumuscu S et al. (2019)
Ext.
Reported Trait: Type 1 diabetes AUROC: 0.798
PPM000047 PGS000023 (AA_GRS) PSS000031 PGP000013
Onengut-Gumuscu S et al. (2019)
Reported Trait: Type 1 diabetes AUROC: 0.779
PPM000048 PGS000024 (GRS2) PSS000032 PGP000014
Sharp SA et al. (2019)
Reported Trait: Type 1 diabetes AUROC: 0.921 Youden index: 0.698
PPM000049 PGS000021 (GRS1) PSS000032 PGP000014
Sharp SA et al. (2019)
Ext.
Reported Trait: Type 1 diabetes AUROC: 0.893
PPM000752 PGS000024 (GRS2) PSS000368 PGP000091
Ferrat LA et al. (2020)
Ext.
Reported Trait: Type 1 diabetes (3 years horizon time; landmark age 2 years) AUROC: 0.94 autoantibodies, family history

Evaluated Samples

PGS Sample Set ID
(PSS ID)
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
PSS000026 Cases were defined on the presence or absence of severe insulin deficiency (requiring insulin treatment at 3 years after diagnosis). We cate- gorized people as severely insulin defi- cient if they received continuous insulin treatment at ,3 years from the time of diagnosis and had a low measured C-peptide level (nonfasting measured ,0.6 nmol/L or equivalent fasting blood glucose level or posthome meal urine C-peptide–to–creatinine ratio)
[
  • 46 cases
  • , 177 controls
]
,
46.3 % Male samples
European P2ID A cross-sectional cohort of people in whom diabetes was diagnosed between the ages of 20 and 40 years (n = 223), who had had diabetes for .3 years, and who had self-reported as white European from Devon and Cornwall in South West England. Known monogenic diabetes and secondary diabetes pa- tients were excluded.
PSS000027 Type 1 diabetes status was assigned according to clinician diagnosis.
[
  • 84 cases
  • , 63 controls
]
,
33.78 % Male samples
African American or Afro-Caribbean UFDI Total sample number contains the number of controls, cases, and includes the number of first/second-degree relatives and samples identified as "at risk" (autoantibody positive) used in other analyses.
PSS000028 Type 1 diabetes status was assigned according to clinician diagnosis.
[
  • 65 cases
  • , 43 controls
]
,
44.84 % Male samples
Hispanic or Latin American Samples labeled Caucasian (Hispanic ethnicity) in the original publication. UFDI Total sample number contains the number of controls, cases, and includes the number of first/second-degree relatives and samples identified as "at risk" (autoantibody positive) used in other analyses.
PSS000029 Type 1 diabetes status was assigned according to clinician diagnosis.
[
  • 478 cases
  • , 290 controls
]
,
47.34 % Male samples
European Samples labeled Caucasian (non-Hispanic) in the original publication. UFDI Total sample number contains the number of controls, cases, and includes the number of first/second-degree relatives and samples identified as "at risk" (autoantibody positive) used in other analyses.
PSS000368 TEDDY children were followed prospectively from 3–4 months of age, with visits every 3 months until 4 years of age. Each evaluation tested the three islet antibodies (GADA, IA2A and IAA), changes in family history, as well as other measurements specified by the TEDDY protocol. After 4 years of age, children with any islet autoantibodies remained on quarterly visits, while antibody-negative children were evaluated every 6 months. Children were followed prospectively until 15 years of age or until T1D onset, as defined using the American Diabetes Association’s criteria for diagnosis (doi: 10.1196/annals.1447.062) Median = 9.3 years
Range = [0.0833, 14.0] years
[
  • 305 cases
  • , 7,493 controls
]
,
50.86 % Male samples
Range = [3.0, 4.0] years Not reported TEDDY From 2004–2010, 424,788 newborns were screened at six US and European centers for high-risk HLA genotypes. TEDDY then enrolled 8,676 eligible infants with the intent to follow them until 15 years of age. The three major eligible HLA DR–DQ haplotypes are DR3–DQA1*0501–DQB1*0201, DR4–DQA1*0301–DQB1*0302 and DR8–DQA1*0401–DQB1*0402.
PSS000083 Cases were clinically diagnosed with T1D before 17 years of age and treated with insulin from diagnosis. Patients with known MODY or NDM were excluded.
[
  • 1,963 cases
  • , 0 controls
]
European WTCCC Cases with Type 1 Diabetes
PSS000083 MODY patients with a confirmed monogenic etiology on genetic testing (415 patients with HNF1A MODY, 346 with GCK MODY, 42 with HNF4A MODY, and 2 with HNF1B MODY). The median age of diagnosis was 20 years (interquartile range 15, 30), and 532 patients were female.
[
  • 805 cases
  • , 0 controls
]
,
33.91 % Male samples
European Maturity-onset diabetes of young (MODY) cases ascertained from the Genetic Βeta Cell Research Bank, Exeter, U.K.
PSS000030
[
  • 1,021 cases
  • , 2,928 controls
]
African unspecified 7 cohorts
  • BDC
  • ,CLEAR
  • ,GoKinD
  • ,NYCP
  • ,SEARCH
  • ,T1DGC
  • ,UAB
PSS000031 Cases are diagnosed with type 1 diabetes.
[
  • 61 cases
  • , 54 controls
]
African unspecified UOF
PSS000032 Type 1 Diabetes Case Definition = Clinical diagnosis of diabetes at less than or equal to 20 years of age; On insulin within 1 year from the time of diagnosis; Still on insulin at the time of recruit- ment; Not using oral antihyperglycemic agents; Did not ever self-report as having type 2 diabetes (T2D)
[
  • 387 cases
  • , 373,613 controls
]
European UKB