Trait: type II diabetes mellitus

Experimental Factor Ontology (EFO) Information
Identifier EFO_0001360
Description A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity. [NCIT: P378]
Trait category
Digestive system disorder
Metabolic disorder
Synonyms 51 synonyms
  • Adult-Onset Diabetes
  • Adult-Onset Diabetes Mellitus
  • DIABETES MELLITUS TYPE 02
  • Diabetes Mellitus, Adult Onset
  • Diabetes Mellitus, Adult-Onset
  • Diabetes Mellitus, Ketosis Resistant
  • Diabetes Mellitus, Ketosis-Resistant
  • Diabetes Mellitus, Maturity Onset
  • Diabetes Mellitus, Maturity-Onset
  • Diabetes Mellitus, Non Insulin Dependent
  • Diabetes Mellitus, Non-Insulin-Dependent
  • Diabetes Mellitus, Noninsulin Dependent
  • Diabetes Mellitus, Slow Onset
  • Diabetes Mellitus, Slow-Onset
  • Diabetes Mellitus, Stable
  • Diabetes Mellitus, Type 2
  • Diabetes Mellitus, Type II
  • Diabetes, Type 2
  • Ketosis-Resistant Diabetes Mellitus
  • MODY
  • Maturity Onset Diabetes Mellitus
  • Maturity-Onset Diabetes Mellitus
  • NIDDM
  • Non-Insulin Dependent Diabetes
  • Non-Insulin Dependent Diabetes Mellitus
  • Slow-Onset Diabetes Mellitus
  • Stable Diabetes Mellitus
  • T2DM - Type 2 Diabetes mellitus
  • T2DM - type 2 diabetes mellitus
  • Type 2 Diabetes
  • Type 2 Diabetes Mellitus
  • Type 2 Diabetes Mellitus Non-Insulin Dependent
  • Type II Diabetes
  • adult onset diabetes
  • adult-onset diabetes
  • diabetes mellitis type 2
  • diabetes mellitis type II
  • diabetes mellitus type 2
  • diabetes mellitus, noninsulin-dependent
  • diabetes mellitus, type 2
  • diabetes, type 2
  • non-insulin dependent diabetes
  • non-insulin dependent diabetes mellitus
  • non-insulin-dependent diabetes mellitus
  • noninsulin dependent diabetes
  • noninsulin-dependent diabetes mellitus
  • type 2 diabetes
  • type 2 diabetes mellitus
  • type 2 diabetes mellitus non-insulin dependent
  • type II diabetes
  • type II diabetes mellitus
Mapped term(s) 15 mapped terms
  • COHD:201826
  • DOID:9352
  • ICD10:E11
  • KEGG:04930
  • MESH:D003924
  • MONDO:0005148
  • MeSH:D003924
  • NCIT:C26747
  • NCIt:C26747
  • OMIM:125853
  • OMIM:601283
  • OMIM:616087
  • SCTID:44054006
  • SNOMEDCT:44054006
  • UMLS:CN244395

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 PGS Scoring File (FTP Link)
PGS000014
(GPS_T2D)
PGP000006 |
Khera AV et al. Nat Genet (2018)
Type 2 diabetes type II diabetes mellitus 6,917,436
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000014/ScoringFiles/PGS000014.txt.gz - Check Terms/Licenses
PGS000020
(dGRS1000)
PGP000010 |
Läll K et al. Genet Med (2016)
Type 2 diabetes type II diabetes mellitus 7,502
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000020/ScoringFiles/PGS000020.txt.gz
PGS000031
(GRSt)
PGP000020 |
Vassy JL et al. Diabetes (2014)
Type 2 diabetes type II diabetes mellitus 62
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000031/ScoringFiles/PGS000031.txt.gz
PGS000032
(GRSB)
PGP000020 |
Vassy JL et al. Diabetes (2014)
Type 2 diabetes (based on SNPs involved in β-cell function) type II diabetes mellitus 20
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000032/ScoringFiles/PGS000032.txt.gz
PGS000033
(GRSIR)
PGP000020 |
Vassy JL et al. Diabetes (2014)
Type 2 diabetes (based on SNPs involved in insulin resistance) type II diabetes mellitus 10
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000033/ScoringFiles/PGS000033.txt.gz
PGS000036
(gePS_T2D)
PGP000023 |
Mahajan A et al. Nat Genet (2018)
Type 2 diabetes type II diabetes mellitus 171,249
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000036/ScoringFiles/PGS000036.txt.gz
PGS000125
(Qi_T2D_2017)
PGP000062 |
Qi Q et al. Diabetes (2017)
Type 2 Diabetes type II diabetes mellitus 80
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000125/ScoringFiles/PGS000125.txt.gz
PGS000330
(PRS_T2D)
PGP000100 |
Mars N et al. Nat Med (2020)
Type 2 diabetes type II diabetes mellitus 6,437,380
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000330/ScoringFiles/PGS000330.txt.gz
PGS000712
(T2D_HbA1c_39)
PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
T2D (cases vs HbA1c filtered controls) type II diabetes mellitus 183,695
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000712/ScoringFiles/PGS000712.txt.gz - Check Terms/Licenses
PGS000713
(T2D)
PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
T2D type II diabetes mellitus 183,830
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000713/ScoringFiles/PGS000713.txt.gz - Check Terms/Licenses
PGS000729
(T2D_PGS)
PGP000137 |
Ritchie SC et al. bioRxiv (2019)
|Pre
Type 2 diabetes type II diabetes mellitus 2,017,388
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000729/ScoringFiles/PGS000729.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
PPM000040 PGS000020
(dGRS1000)
PSS000025|
European Ancestry|
6,280 individuals
PGP000010 |
Läll K et al. Genet Med (2016)
Reported Trait: Incident type 2 diabetes HR: 1.48 [1.32, 1.66] C-index: 0.79 [0.771, 0.812] BMI category, smoking level, waist-to-hip ratio, waist circumference, physical activity level, history of high blood glucose, fruit and vegetable consumption, and sex. Cox age-as-time-scale
PPM000062 PGS000031
(GRSt)
PSS000044|
European Ancestry|
3,471 individuals
PGP000020 |
Vassy JL et al. Diabetes (2014)
Reported Trait: Incident type 2 diabetes cases HR: 1.06 [1.04, 1.08] C-index: 0.906 [0.892, 0.92] age, sex, family history (parents), body mass index, systolic blood pressure, fasting glucose, log-HDL cholesterol, log-triglyceride levels Results from the "Clinical model"
PPM000063 PGS000031
(GRSt)
PSS000043|
European Ancestry|
1,650 individuals
PGP000020 |
Vassy JL et al. Diabetes (2014)
Reported Trait: Incident type 2 diabetes cases HR: 1.06 [1.02, 1.1] C-index: 0.853 [0.81, 0.896] age, sex, family history (parents), body mass index, systolic blood pressure, fasting glucose, log-HDL cholesterol, log-triglyceride levels Results from the "Clinical model"
PPM000064 PGS000031
(GRSt)
PSS000042|
African Ancestry|
820 individuals
PGP000020 |
Vassy JL et al. Diabetes (2014)
Reported Trait: Incident type 2 diabetes cases HR: 1.05 [1.0, 1.09] C-index: 0.771 [0.727, 0.814] age, sex, family history (parents), body mass index, systolic blood pressure, fasting glucose, log-HDL cholesterol, log-triglyceride levels Results from the "Clinical model", SNPs were not weighted by their effect size as the betas were measure in Europeans
PPM000065 PGS000032
(GRSB)
PSS000044|
European Ancestry|
3,471 individuals
PGP000020 |
Vassy JL et al. Diabetes (2014)
Reported Trait: Incident type 2 diabetes cases HR: 1.1 [1.06, 1.14] age, sex, family history (parents), body mass index, systolic blood pressure, fasting glucose, log-HDL cholesterol, log-triglyceride levels Results from the "Clinical model"
PPM000066 PGS000032
(GRSB)
PSS000043|
European Ancestry|
1,650 individuals
PGP000020 |
Vassy JL et al. Diabetes (2014)
Reported Trait: Incident type 2 diabetes cases HR: 1.09 [1.02, 1.17] age, sex, family history (parents), body mass index, systolic blood pressure, fasting glucose, log-HDL cholesterol, log-triglyceride levels Results from the "Clinical model"
PPM000067 PGS000032
(GRSB)
PSS000042|
African Ancestry|
820 individuals
PGP000020 |
Vassy JL et al. Diabetes (2014)
Reported Trait: Incident type 2 diabetes cases HR: 1.06 [0.99, 1.15] age, sex, family history (parents), body mass index, systolic blood pressure, fasting glucose, log-HDL cholesterol, log-triglyceride levels Results from the "Clinical model", SNPs were not weighted by their effect size as the betas were measure in Europeans
PPM000068 PGS000033
(GRSIR)
PSS000044|
European Ancestry|
3,471 individuals
PGP000020 |
Vassy JL et al. Diabetes (2014)
Reported Trait: Incident type 2 diabetes cases HR: 0.98 [0.93, 1.04] age, sex, family history (parents), body mass index, systolic blood pressure, fasting glucose, log-HDL cholesterol, log-triglyceride levels Results from the "Clinical model"
PPM000069 PGS000033
(GRSIR)
PSS000043|
European Ancestry|
1,650 individuals
PGP000020 |
Vassy JL et al. Diabetes (2014)
Reported Trait: Incident type 2 diabetes cases HR: 1.01 [0.91, 1.12] age, sex, family history (parents), body mass index, systolic blood pressure, fasting glucose, log-HDL cholesterol, log-triglyceride levels Results from the "Clinical model"
PPM000070 PGS000033
(GRSIR)
PSS000042|
African Ancestry|
820 individuals
PGP000020 |
Vassy JL et al. Diabetes (2014)
Reported Trait: Incident type 2 diabetes cases HR: 1.06 [0.99, 1.15] age, sex, family history (parents), body mass index, systolic blood pressure, fasting glucose, log-HDL cholesterol, log-triglyceride levels Results from the "Clinical model", SNPs were not weighted by their effect size as the betas were measure in Europeans
PPM000080 PGS000036
(gePS_T2D)
PSS000054|
European Ancestry|
324,870 individuals
PGP000024 |
Udler MS et al. Endocr Rev (2019)
|Ext.
Reported Trait: Type 2 diabetes AUROC: 0.66 genotyping array, first 6 PCs of ancestry
PPM000081 PGS000036
(gePS_T2D)
PSS000054|
European Ancestry|
324,870 individuals
PGP000024 |
Udler MS et al. Endocr Rev (2019)
|Ext.
Reported Trait: Type 2 diabetes AUROC: 0.73 age, sex, genotyping array, first 6 PCs of ancestry
PPM001667 PGS000729
(T2D_PGS)
PSS000869|
European Ancestry|
3,087 individuals
PGP000137 |
Ritchie SC et al. bioRxiv (2019)
|Pre
Reported Trait: Incident type 2 diabetes HR: 2.0 [1.36, 2.94] age, sex, 10 genetic PCs
PPM000404 PGS000125
(Qi_T2D_2017)
PSS000232|
Hispanic or Latin American Ancestry|
7,746 individuals
PGP000062 |
Qi Q et al. Diabetes (2017)
Reported Trait: Type 2 Diabetes OR (Odds Ratio, per risk allele): 1.07 [1.06, 1.08] center, age, sex, 5 PCs of ancestry Covariance matrices corresponding to genetic relatedness (kinship), household, and census block group were included as random effects in the mixed model analysis
PPM000023 PGS000014
(GPS_T2D)
PSS000017|
European Ancestry|
288,978 individuals
PGP000006 |
Khera AV et al. Nat Genet (2018)
Reported Trait: Type 2 diabetes AUROC: 0.73 [0.72, 0.73] Nagelkerke’s R2 (estimate of variance explained by the PGS after covariate adjustment): 0.029 age; sex; Ancestry PC 1-4; genotyping chip
PPM000897 PGS000330
(PRS_T2D)
PSS000441|
European Ancestry|
21,030 individuals
PGP000100 |
Mars N et al. Nat Med (2020)
Reported Trait: Incident type 2 diabetes C-index: 0.845 age, sex, BMI, history of stroke or CHD, parental history of diabetes, SBP, DBP, HDL, triglycerides, FINRISK cohort, genotyping array/batch, 10 ancestry PCs 10-year risk
PPM000892 PGS000330
(PRS_T2D)
PSS000441|
European Ancestry|
21,030 individuals
PGP000100 |
Mars N et al. Nat Med (2020)
Reported Trait: Incident type 2 diabetes HR: 1.7 [1.63, 1.78] C-index: 0.763 age, sex, FINRISK cohort, genotyping array/batch, 10 ancestry PCs 10-year risk
PPM000887 PGS000330
(PRS_T2D)
PSS000448|
European Ancestry|
135,300 individuals
PGP000100 |
Mars N et al. Nat Med (2020)
Reported Trait: Type 2 diabetes (incident and prevalent cases) HR: 1.74 [1.72, 1.77] genotyping array/batch, 10 ancestry PCs, stratified by sex
PPM001604 PGS000712
(T2D_HbA1c_39)
PSS000755|
European Ancestry|
87,413 individuals
PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
Reported Trait: Type 2 diabetes AUROC: 0.68713 Age, sex, PCs(1-10)
PPM001605 PGS000713
(T2D)
PSS000754|
European Ancestry|
87,413 individuals
PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
Reported Trait: Type 2 diabetes AUROC: 0.688 Age, sex, PCs(1-10)
PPM001615 PGS000713
(T2D)
PSS000756|
European Ancestry|
135,300 individuals
PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
Reported Trait: Type 2 diabetes HR: 1.49 [1.47, 1.51] C-index: 0.669 Age as time scale, sex, batch, PCs(1-10)

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
PSS000017 Type 2 diabetes ascertainment was based on self-report in an interview with a trained nurse or an ICD-10 code of E11.X in hospitalization records.
[
  • 5,853 cases
  • , 283,125 controls
]
European UKB UKB Phase 2
PSS000754 87,413 individuals European UKB
PSS000054 Prevalent T2D status was defined using self-reported medical history and medication
[
  • 13,480 cases
  • , 311,390 controls
]
European UKB
PSS000755 87,413 individuals European UKB
PSS000756 ICD-10 E11.0 - E11.9
[
  • 17,519 cases
  • , 117,781 controls
]
European
(Finnish)
FinnGen
PSS000232 Individuals with T2D were defined as those with fasting time >8 h and fasting glucose levels ≥126 mg/dL, fasting ≤8 h and fasting glucose ≥200 mg/dL, post–oral glucose tolerance test glucose ≥200 mg/dL, HbA1c ≥6.5% (48 mmol/mol), or on current treatment with antihyperglycemia medications.
[
  • 2,499 cases
  • , 5,247 controls
]
,
39.65 % Male samples
Hispanic or Latin American
(Central American, Cuban, Dominican, Mexican, Puerto Rican, South American)
Ancestry groups were defined based on a combination of self-identified Hispanic/Latino background and genetic similarity HCHS, SOL
PSS000869 CALIBER rule-based phenotyping algorithms (https://github.com/spiros/chronological-map-phenotypes#diabetes) Median = 6.9 years
[
  • 27 cases
  • , 3,060 controls
]
,
51.0 % Male samples
Median = 44.0 years
Iqr = [30.5, 54.7] years
European INTERVAL
PSS000441 National registries were used to assess disease incidence. Follow-up ended at first-ever diagnosis of the disease of interest, death or at the end of follow-up on December 31, 2018, whichever came first. Disease endpoints are defined in Table S9.
[
  • 1,346 cases
  • , 19,684 controls
]
,
47.3 % Male samples
Mean (Age At Baseline) = 48.0 years European
(Finnish)
FINRISK FINRISK surveys from 1992, 1997, 2002 and 2007
PSS000042 T2D was defined by a fasting plasma glucose ≥7.0 mmol/L (≥126 mg/dL) or report of taking diabetes medications
[
  • 118 cases
  • , 702 controls
]
,
38.8 % Male samples
African American or Afro-Caribbean CARDIA
PSS000043 T2D was defined by a fasting plasma glucose ≥7.0 mmol/L (≥126 mg/dL) or report of taking diabetes medications
[
  • 97 cases
  • , 1,553 controls
]
,
46.5 % Male samples
European CARDIA
PSS000044 T2D was defined by a fasting plasma glucose ≥7.0 mmol/L (≥126 mg/dL) or report of taking diabetes medications
[
  • 446 cases
  • , 3,025 controls
]
,
46.6 % Male samples
European FOS
PSS000448 National registries were used to assess disease incidence. Follow-up ended at first-ever diagnosis of the disease of interest, death or at the end of follow-up on December 31, 2018, whichever came first. Disease endpoints are defined in Table S9.
[
  • 17,519 cases
  • , 117,781 controls
]
,
43.7 % Male samples
Mean (Age At Baseline) = 59.2 years
Sd = 16.6 years
European
(Finnish)
FinnGen
PSS000025 Incident cases of Type 2 Diabetes in 5.63 years follow-up
[
  • 302 cases
  • , 5,978 controls
]
,
55.0 % Male samples
European
(Estonian)
EB