PGS Publication: PGP000619

Publication Information (EuropePMC)
Title Polygenic scores for longitudinal prediction of incident type 2 diabetes in an ancestrally and medically diverse primary care physician network: a patient cohort study.
PubMed ID 38671457(Europe PMC)
doi 10.1186/s13073-024-01337-0
Publication Date April 26, 2024
Journal Genome Med
Author(s) Mandla R, Schroeder P, Porneala B, Florez JC, Meigs JB, Mercader JM, Leong A.
Released in PGS Catalog: May 8, 2024

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

PGS Developed By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS004888
(CAD_gePGS)
 PGP000619 |
Mandla R et al. Genome Med (2024)
 Coronary artery diseae coronary artery disease 1,110,046
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004888/ScoringFiles/PGS004888.txt.gz
PGS004887
(T2D_gePGS)
 PGP000619 |
Mandla R et al. Genome Med (2024)
 Type 2 diabetes (T2D) type 2 diabetes mellitus 1,117,628
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004887/ScoringFiles/PGS004887.txt.gz
PGS004889
(CKD_gePGS)
 PGP000619 |
Mandla R et al. Genome Med (2024)
 Chronic kidney disease chronic kidney disease 1,117,375
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004889/ScoringFiles/PGS004889.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
PPM021265 PGS004887
(T2D_gePGS)
 PSS011671|
Multi-ancestry (including European)|
14,712 individuals
 PGP000619 |
Mandla R et al. Genome Med (2024)
 Reported Trait: Incident type 2 diabetes cases HR: 1.48 [1.4, 1.57] C-index: 0.816 — first 10 ancestry PCs, age, sex, BMI, family history of T2D, systolic blood pressure, triglycerides, total cholesterol, and HDL combined into a clinical risk score and random glucose —
PPM021266 PGS004888
(CAD_gePGS)
 PSS011669|
Multi-ancestry (including European)|
11,515 individuals
 PGP000619 |
Mandla R et al. Genome Med (2024)
 Reported Trait: Incident coronary artery disease cases without diabetes HR: 1.27 [1.18, 1.36] C-index: 0.752 — first 10 ancestry PCs, age, sex, smoking status, systolic blood pressure, HDL, and total cholesterol combined into a clinical risk score —
PPM021268 PGS004888
(CAD_gePGS)
 PSS011669|
Multi-ancestry (including European)|
11,515 individuals
 PGP000619 |
Mandla R et al. Genome Med (2024)
 Reported Trait: Incident coronary artery disease cases with diabetes HR: 1.13 [1.02, 1.25] C-index: 0.668 — first 10 ancestry PCs, age, sex, smoking status, systolic blood pressure, HDL, and total cholesterol combined into a clinical risk score —
PPM021269 PGS004889
(CKD_gePGS)
 PSS011670|
Multi-ancestry (including European)|
11,645 individuals
 PGP000619 |
Mandla R et al. Genome Med (2024)
 Reported Trait: Incident chronic kidney disease cases with diabetes HR: 1.33 [1.18, 1.5] C-index: 0.727 — first 10 ancestry PCs, age, sex, diagnosis history, systolic blood pressure, diastolic blood pressure, weight and HTN diagnosis combined ino a clinical risk score —
PPM021267 PGS004889
(CKD_gePGS)
 PSS011670|
Multi-ancestry (including European)|
11,645 individuals
 PGP000619 |
Mandla R et al. Genome Med (2024)
 Reported Trait: Incident chronic kidney disease cases without diabetes HR: 1.3 [1.18, 1.44] C-index: 0.78 — first 10 ancestry PCs, age, sex, diagnosis history, systolic blood pressure, diastolic blood pressure, weight and HTN diagnosis combined into a clinical risk score —

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
PSS011669 Inclusion: MGH encounter AND ICD-9 code for diabetes AND Problem list term for diabetes OR HbA1C >6.5 in prior 3 years Exclusion: Problem list term not associated with diabetes; Inclusion problem list terms: DM, Diabetes Mellitus, Diabetic Nephropathy, Diabetic Neuropathy, Diabetic Retinopathy, Diabetic foot care, Diabetic foot infection, Diabetes Mellitus without complication, Insulin dependent diabetes mellitus, Insulin dependent diabetes without complications, Type 1, Diabetes mellitus I, DM type I, Juvenile, DM type i, Type I DM, Diabetes Mellitus type 1, Juvenile onset diabetes mellitus, Type 1 diabetes mellitus uncontrolled, Type 1 diabetes mellitus well controlled, DM1, Adult onset, AODM, Type 2, DM type ii, Diabetes mellitus ii, DMii, Type 2 DM, Type ii DM, Diabetes mellitus type 2, noninsulin dependent diabetes mellitus, Type 2 diabetes mellitus uncontrolled, Type 2 diabetes mellitus well controlled, Diabetes adult-adult onset, NIDDM.; Inclusion ICD-9 codes: 250.21, 250.23, 250.11, 250.13, 250.61, 250.63, 250.51, 250.53, 250.31, 250.33, 250.81, 250.83, 250.71, 250.73, 250.41, 250.43, 250.91, 250.93, 250.01, 250.03, 250.20, 250.22, 250.10, 250.12, 250.60, 250.62, 250.50, 250.52, 250.30, 250.32, 250.80, 250.82, 250.70, 250.72, 250.40, 250.42, 250.90, 250.92, 250.00, 250.02; Exclusion problem list terms: negative, neg, r/o, risk, rule out, no, consider diabetes, borderline, gestational, maternal, pregnancy, glucose impai, impaired glucose, insipidus, pre diabetes, prediab, family history, PCOS, Polycystic Ovary Syndrome Median = 13.9 years 9,909 individuals,
42.32 % Male samples
 Mean = 60.4 years European — MGBB —
PSS011669 Inclusion: MGH encounter AND ICD-9 code for diabetes AND Problem list term for diabetes OR HbA1C >6.5 in prior 3 years Exclusion: Problem list term not associated with diabetes; Inclusion problem list terms: DM, Diabetes Mellitus, Diabetic Nephropathy, Diabetic Neuropathy, Diabetic Retinopathy, Diabetic foot care, Diabetic foot infection, Diabetes Mellitus without complication, Insulin dependent diabetes mellitus, Insulin dependent diabetes without complications, Type 1, Diabetes mellitus I, DM type I, Juvenile, DM type i, Type I DM, Diabetes Mellitus type 1, Juvenile onset diabetes mellitus, Type 1 diabetes mellitus uncontrolled, Type 1 diabetes mellitus well controlled, DM1, Adult onset, AODM, Type 2, DM type ii, Diabetes mellitus ii, DMii, Type 2 DM, Type ii DM, Diabetes mellitus type 2, noninsulin dependent diabetes mellitus, Type 2 diabetes mellitus uncontrolled, Type 2 diabetes mellitus well controlled, Diabetes adult-adult onset, NIDDM.; Inclusion ICD-9 codes: 250.21, 250.23, 250.11, 250.13, 250.61, 250.63, 250.51, 250.53, 250.31, 250.33, 250.81, 250.83, 250.71, 250.73, 250.41, 250.43, 250.91, 250.93, 250.01, 250.03, 250.20, 250.22, 250.10, 250.12, 250.60, 250.62, 250.50, 250.52, 250.30, 250.32, 250.80, 250.82, 250.70, 250.72, 250.40, 250.42, 250.90, 250.92, 250.00, 250.02; Exclusion problem list terms: negative, neg, r/o, risk, rule out, no, consider diabetes, borderline, gestational, maternal, pregnancy, glucose impai, impaired glucose, insipidus, pre diabetes, prediab, family history, PCOS, Polycystic Ovary Syndrome Median = 13.9 years 757 individuals,
42.32 % Male samples
 Mean = 60.4 years Hispanic or Latin American — MGBB —
PSS011669 Inclusion: MGH encounter AND ICD-9 code for diabetes AND Problem list term for diabetes OR HbA1C >6.5 in prior 3 years Exclusion: Problem list term not associated with diabetes; Inclusion problem list terms: DM, Diabetes Mellitus, Diabetic Nephropathy, Diabetic Neuropathy, Diabetic Retinopathy, Diabetic foot care, Diabetic foot infection, Diabetes Mellitus without complication, Insulin dependent diabetes mellitus, Insulin dependent diabetes without complications, Type 1, Diabetes mellitus I, DM type I, Juvenile, DM type i, Type I DM, Diabetes Mellitus type 1, Juvenile onset diabetes mellitus, Type 1 diabetes mellitus uncontrolled, Type 1 diabetes mellitus well controlled, DM1, Adult onset, AODM, Type 2, DM type ii, Diabetes mellitus ii, DMii, Type 2 DM, Type ii DM, Diabetes mellitus type 2, noninsulin dependent diabetes mellitus, Type 2 diabetes mellitus uncontrolled, Type 2 diabetes mellitus well controlled, Diabetes adult-adult onset, NIDDM.; Inclusion ICD-9 codes: 250.21, 250.23, 250.11, 250.13, 250.61, 250.63, 250.51, 250.53, 250.31, 250.33, 250.81, 250.83, 250.71, 250.73, 250.41, 250.43, 250.91, 250.93, 250.01, 250.03, 250.20, 250.22, 250.10, 250.12, 250.60, 250.62, 250.50, 250.52, 250.30, 250.32, 250.80, 250.82, 250.70, 250.72, 250.40, 250.42, 250.90, 250.92, 250.00, 250.02; Exclusion problem list terms: negative, neg, r/o, risk, rule out, no, consider diabetes, borderline, gestational, maternal, pregnancy, glucose impai, impaired glucose, insipidus, pre diabetes, prediab, family history, PCOS, Polycystic Ovary Syndrome Median = 13.9 years 347 individuals,
42.32 % Male samples
 Mean = 60.4 years African unspecified — MGBB —
PSS011669 Inclusion: MGH encounter AND ICD-9 code for diabetes AND Problem list term for diabetes OR HbA1C >6.5 in prior 3 years Exclusion: Problem list term not associated with diabetes; Inclusion problem list terms: DM, Diabetes Mellitus, Diabetic Nephropathy, Diabetic Neuropathy, Diabetic Retinopathy, Diabetic foot care, Diabetic foot infection, Diabetes Mellitus without complication, Insulin dependent diabetes mellitus, Insulin dependent diabetes without complications, Type 1, Diabetes mellitus I, DM type I, Juvenile, DM type i, Type I DM, Diabetes Mellitus type 1, Juvenile onset diabetes mellitus, Type 1 diabetes mellitus uncontrolled, Type 1 diabetes mellitus well controlled, DM1, Adult onset, AODM, Type 2, DM type ii, Diabetes mellitus ii, DMii, Type 2 DM, Type ii DM, Diabetes mellitus type 2, noninsulin dependent diabetes mellitus, Type 2 diabetes mellitus uncontrolled, Type 2 diabetes mellitus well controlled, Diabetes adult-adult onset, NIDDM.; Inclusion ICD-9 codes: 250.21, 250.23, 250.11, 250.13, 250.61, 250.63, 250.51, 250.53, 250.31, 250.33, 250.81, 250.83, 250.71, 250.73, 250.41, 250.43, 250.91, 250.93, 250.01, 250.03, 250.20, 250.22, 250.10, 250.12, 250.60, 250.62, 250.50, 250.52, 250.30, 250.32, 250.80, 250.82, 250.70, 250.72, 250.40, 250.42, 250.90, 250.92, 250.00, 250.02; Exclusion problem list terms: negative, neg, r/o, risk, rule out, no, consider diabetes, borderline, gestational, maternal, pregnancy, glucose impai, impaired glucose, insipidus, pre diabetes, prediab, family history, PCOS, Polycystic Ovary Syndrome Median = 13.9 years 183 individuals,
42.32 % Male samples
 Mean = 60.4 years East Asian — MGBB —
PSS011669 Inclusion: MGH encounter AND ICD-9 code for diabetes AND Problem list term for diabetes OR HbA1C >6.5 in prior 3 years Exclusion: Problem list term not associated with diabetes; Inclusion problem list terms: DM, Diabetes Mellitus, Diabetic Nephropathy, Diabetic Neuropathy, Diabetic Retinopathy, Diabetic foot care, Diabetic foot infection, Diabetes Mellitus without complication, Insulin dependent diabetes mellitus, Insulin dependent diabetes without complications, Type 1, Diabetes mellitus I, DM type I, Juvenile, DM type i, Type I DM, Diabetes Mellitus type 1, Juvenile onset diabetes mellitus, Type 1 diabetes mellitus uncontrolled, Type 1 diabetes mellitus well controlled, DM1, Adult onset, AODM, Type 2, DM type ii, Diabetes mellitus ii, DMii, Type 2 DM, Type ii DM, Diabetes mellitus type 2, noninsulin dependent diabetes mellitus, Type 2 diabetes mellitus uncontrolled, Type 2 diabetes mellitus well controlled, Diabetes adult-adult onset, NIDDM.; Inclusion ICD-9 codes: 250.21, 250.23, 250.11, 250.13, 250.61, 250.63, 250.51, 250.53, 250.31, 250.33, 250.81, 250.83, 250.71, 250.73, 250.41, 250.43, 250.91, 250.93, 250.01, 250.03, 250.20, 250.22, 250.10, 250.12, 250.60, 250.62, 250.50, 250.52, 250.30, 250.32, 250.80, 250.82, 250.70, 250.72, 250.40, 250.42, 250.90, 250.92, 250.00, 250.02; Exclusion problem list terms: negative, neg, r/o, risk, rule out, no, consider diabetes, borderline, gestational, maternal, pregnancy, glucose impai, impaired glucose, insipidus, pre diabetes, prediab, family history, PCOS, Polycystic Ovary Syndrome Median = 13.9 years 82 individuals,
42.32 % Male samples
 Mean = 60.4 years South Asian — MGBB —
PSS011669 Inclusion: MGH encounter AND ICD-9 code for diabetes AND Problem list term for diabetes OR HbA1C >6.5 in prior 3 years Exclusion: Problem list term not associated with diabetes; Inclusion problem list terms: DM, Diabetes Mellitus, Diabetic Nephropathy, Diabetic Neuropathy, Diabetic Retinopathy, Diabetic foot care, Diabetic foot infection, Diabetes Mellitus without complication, Insulin dependent diabetes mellitus, Insulin dependent diabetes without complications, Type 1, Diabetes mellitus I, DM type I, Juvenile, DM type i, Type I DM, Diabetes Mellitus type 1, Juvenile onset diabetes mellitus, Type 1 diabetes mellitus uncontrolled, Type 1 diabetes mellitus well controlled, DM1, Adult onset, AODM, Type 2, DM type ii, Diabetes mellitus ii, DMii, Type 2 DM, Type ii DM, Diabetes mellitus type 2, noninsulin dependent diabetes mellitus, Type 2 diabetes mellitus uncontrolled, Type 2 diabetes mellitus well controlled, Diabetes adult-adult onset, NIDDM.; Inclusion ICD-9 codes: 250.21, 250.23, 250.11, 250.13, 250.61, 250.63, 250.51, 250.53, 250.31, 250.33, 250.81, 250.83, 250.71, 250.73, 250.41, 250.43, 250.91, 250.93, 250.01, 250.03, 250.20, 250.22, 250.10, 250.12, 250.60, 250.62, 250.50, 250.52, 250.30, 250.32, 250.80, 250.82, 250.70, 250.72, 250.40, 250.42, 250.90, 250.92, 250.00, 250.02; Exclusion problem list terms: negative, neg, r/o, risk, rule out, no, consider diabetes, borderline, gestational, maternal, pregnancy, glucose impai, impaired glucose, insipidus, pre diabetes, prediab, family history, PCOS, Polycystic Ovary Syndrome Median = 13.9 years 83 individuals,
42.32 % Male samples
 Mean = 60.4 years Greater Middle Eastern (Middle Eastern, North African or Persian) — MGBB —
PSS011669 Inclusion: MGH encounter AND ICD-9 code for diabetes AND Problem list term for diabetes OR HbA1C >6.5 in prior 3 years Exclusion: Problem list term not associated with diabetes; Inclusion problem list terms: DM, Diabetes Mellitus, Diabetic Nephropathy, Diabetic Neuropathy, Diabetic Retinopathy, Diabetic foot care, Diabetic foot infection, Diabetes Mellitus without complication, Insulin dependent diabetes mellitus, Insulin dependent diabetes without complications, Type 1, Diabetes mellitus I, DM type I, Juvenile, DM type i, Type I DM, Diabetes Mellitus type 1, Juvenile onset diabetes mellitus, Type 1 diabetes mellitus uncontrolled, Type 1 diabetes mellitus well controlled, DM1, Adult onset, AODM, Type 2, DM type ii, Diabetes mellitus ii, DMii, Type 2 DM, Type ii DM, Diabetes mellitus type 2, noninsulin dependent diabetes mellitus, Type 2 diabetes mellitus uncontrolled, Type 2 diabetes mellitus well controlled, Diabetes adult-adult onset, NIDDM.; Inclusion ICD-9 codes: 250.21, 250.23, 250.11, 250.13, 250.61, 250.63, 250.51, 250.53, 250.31, 250.33, 250.81, 250.83, 250.71, 250.73, 250.41, 250.43, 250.91, 250.93, 250.01, 250.03, 250.20, 250.22, 250.10, 250.12, 250.60, 250.62, 250.50, 250.52, 250.30, 250.32, 250.80, 250.82, 250.70, 250.72, 250.40, 250.42, 250.90, 250.92, 250.00, 250.02; Exclusion problem list terms: negative, neg, r/o, risk, rule out, no, consider diabetes, borderline, gestational, maternal, pregnancy, glucose impai, impaired glucose, insipidus, pre diabetes, prediab, family history, PCOS, Polycystic Ovary Syndrome Median = 13.9 years 154 individuals,
42.32 % Male samples
 Mean = 60.4 years Not reported — MGBB —
PSS011670 Inclusion: MGH encounter AND ICD-9 code for diabetes AND Problem list term for diabetes OR HbA1C >6.5 in prior 3 years Exclusion: Problem list term not associated with diabetes; Inclusion problem list terms: DM, Diabetes Mellitus, Diabetic Nephropathy, Diabetic Neuropathy, Diabetic Retinopathy, Diabetic foot care, Diabetic foot infection, Diabetes Mellitus without complication, Insulin dependent diabetes mellitus, Insulin dependent diabetes without complications, Type 1, Diabetes mellitus I, DM type I, Juvenile, DM type i, Type I DM, Diabetes Mellitus type 1, Juvenile onset diabetes mellitus, Type 1 diabetes mellitus uncontrolled, Type 1 diabetes mellitus well controlled, DM1, Adult onset, AODM, Type 2, DM type ii, Diabetes mellitus ii, DMii, Type 2 DM, Type ii DM, Diabetes mellitus type 2, noninsulin dependent diabetes mellitus, Type 2 diabetes mellitus uncontrolled, Type 2 diabetes mellitus well controlled, Diabetes adult-adult onset, NIDDM.; Inclusion ICD-9 codes: 250.21, 250.23, 250.11, 250.13, 250.61, 250.63, 250.51, 250.53, 250.31, 250.33, 250.81, 250.83, 250.71, 250.73, 250.41, 250.43, 250.91, 250.93, 250.01, 250.03, 250.20, 250.22, 250.10, 250.12, 250.60, 250.62, 250.50, 250.52, 250.30, 250.32, 250.80, 250.82, 250.70, 250.72, 250.40, 250.42, 250.90, 250.92, 250.00, 250.02; Exclusion problem list terms: negative, neg, r/o, risk, rule out, no, consider diabetes, borderline, gestational, maternal, pregnancy, glucose impai, impaired glucose, insipidus, pre diabetes, prediab, family history, PCOS, Polycystic Ovary Syndrome Median = 13.9 years 10,041 individuals,
44.8 % Male samples
 Mean = 60.8 years European — MGBB —
PSS011670 Inclusion: MGH encounter AND ICD-9 code for diabetes AND Problem list term for diabetes OR HbA1C >6.5 in prior 3 years Exclusion: Problem list term not associated with diabetes; Inclusion problem list terms: DM, Diabetes Mellitus, Diabetic Nephropathy, Diabetic Neuropathy, Diabetic Retinopathy, Diabetic foot care, Diabetic foot infection, Diabetes Mellitus without complication, Insulin dependent diabetes mellitus, Insulin dependent diabetes without complications, Type 1, Diabetes mellitus I, DM type I, Juvenile, DM type i, Type I DM, Diabetes Mellitus type 1, Juvenile onset diabetes mellitus, Type 1 diabetes mellitus uncontrolled, Type 1 diabetes mellitus well controlled, DM1, Adult onset, AODM, Type 2, DM type ii, Diabetes mellitus ii, DMii, Type 2 DM, Type ii DM, Diabetes mellitus type 2, noninsulin dependent diabetes mellitus, Type 2 diabetes mellitus uncontrolled, Type 2 diabetes mellitus well controlled, Diabetes adult-adult onset, NIDDM.; Inclusion ICD-9 codes: 250.21, 250.23, 250.11, 250.13, 250.61, 250.63, 250.51, 250.53, 250.31, 250.33, 250.81, 250.83, 250.71, 250.73, 250.41, 250.43, 250.91, 250.93, 250.01, 250.03, 250.20, 250.22, 250.10, 250.12, 250.60, 250.62, 250.50, 250.52, 250.30, 250.32, 250.80, 250.82, 250.70, 250.72, 250.40, 250.42, 250.90, 250.92, 250.00, 250.02; Exclusion problem list terms: negative, neg, r/o, risk, rule out, no, consider diabetes, borderline, gestational, maternal, pregnancy, glucose impai, impaired glucose, insipidus, pre diabetes, prediab, family history, PCOS, Polycystic Ovary Syndrome Median = 13.9 years 754 individuals,
44.8 % Male samples
 Mean = 60.8 years Hispanic or Latin American — MGBB —
PSS011670 Inclusion: MGH encounter AND ICD-9 code for diabetes AND Problem list term for diabetes OR HbA1C >6.5 in prior 3 years Exclusion: Problem list term not associated with diabetes; Inclusion problem list terms: DM, Diabetes Mellitus, Diabetic Nephropathy, Diabetic Neuropathy, Diabetic Retinopathy, Diabetic foot care, Diabetic foot infection, Diabetes Mellitus without complication, Insulin dependent diabetes mellitus, Insulin dependent diabetes without complications, Type 1, Diabetes mellitus I, DM type I, Juvenile, DM type i, Type I DM, Diabetes Mellitus type 1, Juvenile onset diabetes mellitus, Type 1 diabetes mellitus uncontrolled, Type 1 diabetes mellitus well controlled, DM1, Adult onset, AODM, Type 2, DM type ii, Diabetes mellitus ii, DMii, Type 2 DM, Type ii DM, Diabetes mellitus type 2, noninsulin dependent diabetes mellitus, Type 2 diabetes mellitus uncontrolled, Type 2 diabetes mellitus well controlled, Diabetes adult-adult onset, NIDDM.; Inclusion ICD-9 codes: 250.21, 250.23, 250.11, 250.13, 250.61, 250.63, 250.51, 250.53, 250.31, 250.33, 250.81, 250.83, 250.71, 250.73, 250.41, 250.43, 250.91, 250.93, 250.01, 250.03, 250.20, 250.22, 250.10, 250.12, 250.60, 250.62, 250.50, 250.52, 250.30, 250.32, 250.80, 250.82, 250.70, 250.72, 250.40, 250.42, 250.90, 250.92, 250.00, 250.02; Exclusion problem list terms: negative, neg, r/o, risk, rule out, no, consider diabetes, borderline, gestational, maternal, pregnancy, glucose impai, impaired glucose, insipidus, pre diabetes, prediab, family history, PCOS, Polycystic Ovary Syndrome Median = 13.9 years 343 individuals,
44.8 % Male samples
 Mean = 60.8 years African unspecified — MGBB —
PSS011670 Inclusion: MGH encounter AND ICD-9 code for diabetes AND Problem list term for diabetes OR HbA1C >6.5 in prior 3 years Exclusion: Problem list term not associated with diabetes; Inclusion problem list terms: DM, Diabetes Mellitus, Diabetic Nephropathy, Diabetic Neuropathy, Diabetic Retinopathy, Diabetic foot care, Diabetic foot infection, Diabetes Mellitus without complication, Insulin dependent diabetes mellitus, Insulin dependent diabetes without complications, Type 1, Diabetes mellitus I, DM type I, Juvenile, DM type i, Type I DM, Diabetes Mellitus type 1, Juvenile onset diabetes mellitus, Type 1 diabetes mellitus uncontrolled, Type 1 diabetes mellitus well controlled, DM1, Adult onset, AODM, Type 2, DM type ii, Diabetes mellitus ii, DMii, Type 2 DM, Type ii DM, Diabetes mellitus type 2, noninsulin dependent diabetes mellitus, Type 2 diabetes mellitus uncontrolled, Type 2 diabetes mellitus well controlled, Diabetes adult-adult onset, NIDDM.; Inclusion ICD-9 codes: 250.21, 250.23, 250.11, 250.13, 250.61, 250.63, 250.51, 250.53, 250.31, 250.33, 250.81, 250.83, 250.71, 250.73, 250.41, 250.43, 250.91, 250.93, 250.01, 250.03, 250.20, 250.22, 250.10, 250.12, 250.60, 250.62, 250.50, 250.52, 250.30, 250.32, 250.80, 250.82, 250.70, 250.72, 250.40, 250.42, 250.90, 250.92, 250.00, 250.02; Exclusion problem list terms: negative, neg, r/o, risk, rule out, no, consider diabetes, borderline, gestational, maternal, pregnancy, glucose impai, impaired glucose, insipidus, pre diabetes, prediab, family history, PCOS, Polycystic Ovary Syndrome Median = 13.9 years 181 individuals,
44.8 % Male samples
 Mean = 60.8 years East Asian — MGBB —
PSS011670 Inclusion: MGH encounter AND ICD-9 code for diabetes AND Problem list term for diabetes OR HbA1C >6.5 in prior 3 years Exclusion: Problem list term not associated with diabetes; Inclusion problem list terms: DM, Diabetes Mellitus, Diabetic Nephropathy, Diabetic Neuropathy, Diabetic Retinopathy, Diabetic foot care, Diabetic foot infection, Diabetes Mellitus without complication, Insulin dependent diabetes mellitus, Insulin dependent diabetes without complications, Type 1, Diabetes mellitus I, DM type I, Juvenile, DM type i, Type I DM, Diabetes Mellitus type 1, Juvenile onset diabetes mellitus, Type 1 diabetes mellitus uncontrolled, Type 1 diabetes mellitus well controlled, DM1, Adult onset, AODM, Type 2, DM type ii, Diabetes mellitus ii, DMii, Type 2 DM, Type ii DM, Diabetes mellitus type 2, noninsulin dependent diabetes mellitus, Type 2 diabetes mellitus uncontrolled, Type 2 diabetes mellitus well controlled, Diabetes adult-adult onset, NIDDM.; Inclusion ICD-9 codes: 250.21, 250.23, 250.11, 250.13, 250.61, 250.63, 250.51, 250.53, 250.31, 250.33, 250.81, 250.83, 250.71, 250.73, 250.41, 250.43, 250.91, 250.93, 250.01, 250.03, 250.20, 250.22, 250.10, 250.12, 250.60, 250.62, 250.50, 250.52, 250.30, 250.32, 250.80, 250.82, 250.70, 250.72, 250.40, 250.42, 250.90, 250.92, 250.00, 250.02; Exclusion problem list terms: negative, neg, r/o, risk, rule out, no, consider diabetes, borderline, gestational, maternal, pregnancy, glucose impai, impaired glucose, insipidus, pre diabetes, prediab, family history, PCOS, Polycystic Ovary Syndrome Median = 13.9 years 83 individuals,
44.8 % Male samples
 Mean = 60.8 years South Asian — MGBB —
PSS011670 Inclusion: MGH encounter AND ICD-9 code for diabetes AND Problem list term for diabetes OR HbA1C >6.5 in prior 3 years Exclusion: Problem list term not associated with diabetes; Inclusion problem list terms: DM, Diabetes Mellitus, Diabetic Nephropathy, Diabetic Neuropathy, Diabetic Retinopathy, Diabetic foot care, Diabetic foot infection, Diabetes Mellitus without complication, Insulin dependent diabetes mellitus, Insulin dependent diabetes without complications, Type 1, Diabetes mellitus I, DM type I, Juvenile, DM type i, Type I DM, Diabetes Mellitus type 1, Juvenile onset diabetes mellitus, Type 1 diabetes mellitus uncontrolled, Type 1 diabetes mellitus well controlled, DM1, Adult onset, AODM, Type 2, DM type ii, Diabetes mellitus ii, DMii, Type 2 DM, Type ii DM, Diabetes mellitus type 2, noninsulin dependent diabetes mellitus, Type 2 diabetes mellitus uncontrolled, Type 2 diabetes mellitus well controlled, Diabetes adult-adult onset, NIDDM.; Inclusion ICD-9 codes: 250.21, 250.23, 250.11, 250.13, 250.61, 250.63, 250.51, 250.53, 250.31, 250.33, 250.81, 250.83, 250.71, 250.73, 250.41, 250.43, 250.91, 250.93, 250.01, 250.03, 250.20, 250.22, 250.10, 250.12, 250.60, 250.62, 250.50, 250.52, 250.30, 250.32, 250.80, 250.82, 250.70, 250.72, 250.40, 250.42, 250.90, 250.92, 250.00, 250.02; Exclusion problem list terms: negative, neg, r/o, risk, rule out, no, consider diabetes, borderline, gestational, maternal, pregnancy, glucose impai, impaired glucose, insipidus, pre diabetes, prediab, family history, PCOS, Polycystic Ovary Syndrome Median = 13.9 years 87 individuals,
44.8 % Male samples
 Mean = 60.8 years Greater Middle Eastern (Middle Eastern, North African or Persian) — MGBB —
PSS011670 Inclusion: MGH encounter AND ICD-9 code for diabetes AND Problem list term for diabetes OR HbA1C >6.5 in prior 3 years Exclusion: Problem list term not associated with diabetes; Inclusion problem list terms: DM, Diabetes Mellitus, Diabetic Nephropathy, Diabetic Neuropathy, Diabetic Retinopathy, Diabetic foot care, Diabetic foot infection, Diabetes Mellitus without complication, Insulin dependent diabetes mellitus, Insulin dependent diabetes without complications, Type 1, Diabetes mellitus I, DM type I, Juvenile, DM type i, Type I DM, Diabetes Mellitus type 1, Juvenile onset diabetes mellitus, Type 1 diabetes mellitus uncontrolled, Type 1 diabetes mellitus well controlled, DM1, Adult onset, AODM, Type 2, DM type ii, Diabetes mellitus ii, DMii, Type 2 DM, Type ii DM, Diabetes mellitus type 2, noninsulin dependent diabetes mellitus, Type 2 diabetes mellitus uncontrolled, Type 2 diabetes mellitus well controlled, Diabetes adult-adult onset, NIDDM.; Inclusion ICD-9 codes: 250.21, 250.23, 250.11, 250.13, 250.61, 250.63, 250.51, 250.53, 250.31, 250.33, 250.81, 250.83, 250.71, 250.73, 250.41, 250.43, 250.91, 250.93, 250.01, 250.03, 250.20, 250.22, 250.10, 250.12, 250.60, 250.62, 250.50, 250.52, 250.30, 250.32, 250.80, 250.82, 250.70, 250.72, 250.40, 250.42, 250.90, 250.92, 250.00, 250.02; Exclusion problem list terms: negative, neg, r/o, risk, rule out, no, consider diabetes, borderline, gestational, maternal, pregnancy, glucose impai, impaired glucose, insipidus, pre diabetes, prediab, family history, PCOS, Polycystic Ovary Syndrome Median = 13.9 years 156 individuals,
44.8 % Male samples
 Mean = 60.8 years Not reported — MGBB —
PSS011671 Inclusion: MGH encounter AND ICD-9 code for diabetes AND Problem list term for diabetes OR HbA1C >6.5 in prior 3 years Exclusion: Problem list term not associated with diabetes; Inclusion problem list terms: DM, Diabetes Mellitus, Diabetic Nephropathy, Diabetic Neuropathy, Diabetic Retinopathy, Diabetic foot care, Diabetic foot infection, Diabetes Mellitus without complication, Insulin dependent diabetes mellitus, Insulin dependent diabetes without complications, Type 1, Diabetes mellitus I, DM type I, Juvenile, DM type i, Type I DM, Diabetes Mellitus type 1, Juvenile onset diabetes mellitus, Type 1 diabetes mellitus uncontrolled, Type 1 diabetes mellitus well controlled, DM1, Adult onset, AODM, Type 2, DM type ii, Diabetes mellitus ii, DMii, Type 2 DM, Type ii DM, Diabetes mellitus type 2, noninsulin dependent diabetes mellitus, Type 2 diabetes mellitus uncontrolled, Type 2 diabetes mellitus well controlled, Diabetes adult-adult onset, NIDDM.; Inclusion ICD-9 codes: 250.21, 250.23, 250.11, 250.13, 250.61, 250.63, 250.51, 250.53, 250.31, 250.33, 250.81, 250.83, 250.71, 250.73, 250.41, 250.43, 250.91, 250.93, 250.01, 250.03, 250.20, 250.22, 250.10, 250.12, 250.60, 250.62, 250.50, 250.52, 250.30, 250.32, 250.80, 250.82, 250.70, 250.72, 250.40, 250.42, 250.90, 250.92, 250.00, 250.02; Exclusion problem list terms: negative, neg, r/o, risk, rule out, no, consider diabetes, borderline, gestational, maternal, pregnancy, glucose impai, impaired glucose, insipidus, pre diabetes, prediab, family history, PCOS, Polycystic Ovary Syndrome Median = 13.9 years 12,508 individuals,
45.86 % Male samples
 Mean = 48.9 years European — MGBB —
PSS011671 Inclusion: MGH encounter AND ICD-9 code for diabetes AND Problem list term for diabetes OR HbA1C >6.5 in prior 3 years Exclusion: Problem list term not associated with diabetes; Inclusion problem list terms: DM, Diabetes Mellitus, Diabetic Nephropathy, Diabetic Neuropathy, Diabetic Retinopathy, Diabetic foot care, Diabetic foot infection, Diabetes Mellitus without complication, Insulin dependent diabetes mellitus, Insulin dependent diabetes without complications, Type 1, Diabetes mellitus I, DM type I, Juvenile, DM type i, Type I DM, Diabetes Mellitus type 1, Juvenile onset diabetes mellitus, Type 1 diabetes mellitus uncontrolled, Type 1 diabetes mellitus well controlled, DM1, Adult onset, AODM, Type 2, DM type ii, Diabetes mellitus ii, DMii, Type 2 DM, Type ii DM, Diabetes mellitus type 2, noninsulin dependent diabetes mellitus, Type 2 diabetes mellitus uncontrolled, Type 2 diabetes mellitus well controlled, Diabetes adult-adult onset, NIDDM.; Inclusion ICD-9 codes: 250.21, 250.23, 250.11, 250.13, 250.61, 250.63, 250.51, 250.53, 250.31, 250.33, 250.81, 250.83, 250.71, 250.73, 250.41, 250.43, 250.91, 250.93, 250.01, 250.03, 250.20, 250.22, 250.10, 250.12, 250.60, 250.62, 250.50, 250.52, 250.30, 250.32, 250.80, 250.82, 250.70, 250.72, 250.40, 250.42, 250.90, 250.92, 250.00, 250.02; Exclusion problem list terms: negative, neg, r/o, risk, rule out, no, consider diabetes, borderline, gestational, maternal, pregnancy, glucose impai, impaired glucose, insipidus, pre diabetes, prediab, family history, PCOS, Polycystic Ovary Syndrome Median = 13.9 years 1,003 individuals,
45.86 % Male samples
 Mean = 48.9 years Hispanic or Latin American — MGBB —
PSS011671 Inclusion: MGH encounter AND ICD-9 code for diabetes AND Problem list term for diabetes OR HbA1C >6.5 in prior 3 years Exclusion: Problem list term not associated with diabetes; Inclusion problem list terms: DM, Diabetes Mellitus, Diabetic Nephropathy, Diabetic Neuropathy, Diabetic Retinopathy, Diabetic foot care, Diabetic foot infection, Diabetes Mellitus without complication, Insulin dependent diabetes mellitus, Insulin dependent diabetes without complications, Type 1, Diabetes mellitus I, DM type I, Juvenile, DM type i, Type I DM, Diabetes Mellitus type 1, Juvenile onset diabetes mellitus, Type 1 diabetes mellitus uncontrolled, Type 1 diabetes mellitus well controlled, DM1, Adult onset, AODM, Type 2, DM type ii, Diabetes mellitus ii, DMii, Type 2 DM, Type ii DM, Diabetes mellitus type 2, noninsulin dependent diabetes mellitus, Type 2 diabetes mellitus uncontrolled, Type 2 diabetes mellitus well controlled, Diabetes adult-adult onset, NIDDM.; Inclusion ICD-9 codes: 250.21, 250.23, 250.11, 250.13, 250.61, 250.63, 250.51, 250.53, 250.31, 250.33, 250.81, 250.83, 250.71, 250.73, 250.41, 250.43, 250.91, 250.93, 250.01, 250.03, 250.20, 250.22, 250.10, 250.12, 250.60, 250.62, 250.50, 250.52, 250.30, 250.32, 250.80, 250.82, 250.70, 250.72, 250.40, 250.42, 250.90, 250.92, 250.00, 250.02; Exclusion problem list terms: negative, neg, r/o, risk, rule out, no, consider diabetes, borderline, gestational, maternal, pregnancy, glucose impai, impaired glucose, insipidus, pre diabetes, prediab, family history, PCOS, Polycystic Ovary Syndrome Median = 13.9 years 520 individuals,
45.86 % Male samples
 Mean = 48.9 years African unspecified — MGBB —
PSS011671 Inclusion: MGH encounter AND ICD-9 code for diabetes AND Problem list term for diabetes OR HbA1C >6.5 in prior 3 years Exclusion: Problem list term not associated with diabetes; Inclusion problem list terms: DM, Diabetes Mellitus, Diabetic Nephropathy, Diabetic Neuropathy, Diabetic Retinopathy, Diabetic foot care, Diabetic foot infection, Diabetes Mellitus without complication, Insulin dependent diabetes mellitus, Insulin dependent diabetes without complications, Type 1, Diabetes mellitus I, DM type I, Juvenile, DM type i, Type I DM, Diabetes Mellitus type 1, Juvenile onset diabetes mellitus, Type 1 diabetes mellitus uncontrolled, Type 1 diabetes mellitus well controlled, DM1, Adult onset, AODM, Type 2, DM type ii, Diabetes mellitus ii, DMii, Type 2 DM, Type ii DM, Diabetes mellitus type 2, noninsulin dependent diabetes mellitus, Type 2 diabetes mellitus uncontrolled, Type 2 diabetes mellitus well controlled, Diabetes adult-adult onset, NIDDM.; Inclusion ICD-9 codes: 250.21, 250.23, 250.11, 250.13, 250.61, 250.63, 250.51, 250.53, 250.31, 250.33, 250.81, 250.83, 250.71, 250.73, 250.41, 250.43, 250.91, 250.93, 250.01, 250.03, 250.20, 250.22, 250.10, 250.12, 250.60, 250.62, 250.50, 250.52, 250.30, 250.32, 250.80, 250.82, 250.70, 250.72, 250.40, 250.42, 250.90, 250.92, 250.00, 250.02; Exclusion problem list terms: negative, neg, r/o, risk, rule out, no, consider diabetes, borderline, gestational, maternal, pregnancy, glucose impai, impaired glucose, insipidus, pre diabetes, prediab, family history, PCOS, Polycystic Ovary Syndrome Median = 13.9 years 240 individuals,
45.86 % Male samples
 Mean = 48.9 years East Asian — MGBB —
PSS011671 Inclusion: MGH encounter AND ICD-9 code for diabetes AND Problem list term for diabetes OR HbA1C >6.5 in prior 3 years Exclusion: Problem list term not associated with diabetes; Inclusion problem list terms: DM, Diabetes Mellitus, Diabetic Nephropathy, Diabetic Neuropathy, Diabetic Retinopathy, Diabetic foot care, Diabetic foot infection, Diabetes Mellitus without complication, Insulin dependent diabetes mellitus, Insulin dependent diabetes without complications, Type 1, Diabetes mellitus I, DM type I, Juvenile, DM type i, Type I DM, Diabetes Mellitus type 1, Juvenile onset diabetes mellitus, Type 1 diabetes mellitus uncontrolled, Type 1 diabetes mellitus well controlled, DM1, Adult onset, AODM, Type 2, DM type ii, Diabetes mellitus ii, DMii, Type 2 DM, Type ii DM, Diabetes mellitus type 2, noninsulin dependent diabetes mellitus, Type 2 diabetes mellitus uncontrolled, Type 2 diabetes mellitus well controlled, Diabetes adult-adult onset, NIDDM.; Inclusion ICD-9 codes: 250.21, 250.23, 250.11, 250.13, 250.61, 250.63, 250.51, 250.53, 250.31, 250.33, 250.81, 250.83, 250.71, 250.73, 250.41, 250.43, 250.91, 250.93, 250.01, 250.03, 250.20, 250.22, 250.10, 250.12, 250.60, 250.62, 250.50, 250.52, 250.30, 250.32, 250.80, 250.82, 250.70, 250.72, 250.40, 250.42, 250.90, 250.92, 250.00, 250.02; Exclusion problem list terms: negative, neg, r/o, risk, rule out, no, consider diabetes, borderline, gestational, maternal, pregnancy, glucose impai, impaired glucose, insipidus, pre diabetes, prediab, family history, PCOS, Polycystic Ovary Syndrome Median = 13.9 years 117 individuals,
45.86 % Male samples
 Mean = 48.9 years South Asian — MGBB —
PSS011671 Inclusion: MGH encounter AND ICD-9 code for diabetes AND Problem list term for diabetes OR HbA1C >6.5 in prior 3 years Exclusion: Problem list term not associated with diabetes; Inclusion problem list terms: DM, Diabetes Mellitus, Diabetic Nephropathy, Diabetic Neuropathy, Diabetic Retinopathy, Diabetic foot care, Diabetic foot infection, Diabetes Mellitus without complication, Insulin dependent diabetes mellitus, Insulin dependent diabetes without complications, Type 1, Diabetes mellitus I, DM type I, Juvenile, DM type i, Type I DM, Diabetes Mellitus type 1, Juvenile onset diabetes mellitus, Type 1 diabetes mellitus uncontrolled, Type 1 diabetes mellitus well controlled, DM1, Adult onset, AODM, Type 2, DM type ii, Diabetes mellitus ii, DMii, Type 2 DM, Type ii DM, Diabetes mellitus type 2, noninsulin dependent diabetes mellitus, Type 2 diabetes mellitus uncontrolled, Type 2 diabetes mellitus well controlled, Diabetes adult-adult onset, NIDDM.; Inclusion ICD-9 codes: 250.21, 250.23, 250.11, 250.13, 250.61, 250.63, 250.51, 250.53, 250.31, 250.33, 250.81, 250.83, 250.71, 250.73, 250.41, 250.43, 250.91, 250.93, 250.01, 250.03, 250.20, 250.22, 250.10, 250.12, 250.60, 250.62, 250.50, 250.52, 250.30, 250.32, 250.80, 250.82, 250.70, 250.72, 250.40, 250.42, 250.90, 250.92, 250.00, 250.02; Exclusion problem list terms: negative, neg, r/o, risk, rule out, no, consider diabetes, borderline, gestational, maternal, pregnancy, glucose impai, impaired glucose, insipidus, pre diabetes, prediab, family history, PCOS, Polycystic Ovary Syndrome Median = 13.9 years 125 individuals,
45.86 % Male samples
 Mean = 48.9 years Greater Middle Eastern (Middle Eastern, North African or Persian) — MGBB —
PSS011671 Inclusion: MGH encounter AND ICD-9 code for diabetes AND Problem list term for diabetes OR HbA1C >6.5 in prior 3 years Exclusion: Problem list term not associated with diabetes; Inclusion problem list terms: DM, Diabetes Mellitus, Diabetic Nephropathy, Diabetic Neuropathy, Diabetic Retinopathy, Diabetic foot care, Diabetic foot infection, Diabetes Mellitus without complication, Insulin dependent diabetes mellitus, Insulin dependent diabetes without complications, Type 1, Diabetes mellitus I, DM type I, Juvenile, DM type i, Type I DM, Diabetes Mellitus type 1, Juvenile onset diabetes mellitus, Type 1 diabetes mellitus uncontrolled, Type 1 diabetes mellitus well controlled, DM1, Adult onset, AODM, Type 2, DM type ii, Diabetes mellitus ii, DMii, Type 2 DM, Type ii DM, Diabetes mellitus type 2, noninsulin dependent diabetes mellitus, Type 2 diabetes mellitus uncontrolled, Type 2 diabetes mellitus well controlled, Diabetes adult-adult onset, NIDDM.; Inclusion ICD-9 codes: 250.21, 250.23, 250.11, 250.13, 250.61, 250.63, 250.51, 250.53, 250.31, 250.33, 250.81, 250.83, 250.71, 250.73, 250.41, 250.43, 250.91, 250.93, 250.01, 250.03, 250.20, 250.22, 250.10, 250.12, 250.60, 250.62, 250.50, 250.52, 250.30, 250.32, 250.80, 250.82, 250.70, 250.72, 250.40, 250.42, 250.90, 250.92, 250.00, 250.02; Exclusion problem list terms: negative, neg, r/o, risk, rule out, no, consider diabetes, borderline, gestational, maternal, pregnancy, glucose impai, impaired glucose, insipidus, pre diabetes, prediab, family history, PCOS, Polycystic Ovary Syndrome Median = 13.9 years 199 individuals,
45.86 % Male samples
 Mean = 48.9 years Not reported — MGBB —