Polygenic Score (PGS) ID: PGS004889

Predicted Trait
Reported Trait Chronic kidney disease
Mapped Trait(s) chronic kidney disease (EFO_0003884)
Released in PGS Catalog: May 8, 2024
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Terms and Licenses
PGS obtained from the Catalog should be cited appropriately, and used in accordance with any licensing restrictions set by the authors. See EBI Terms of Use (https://www.ebi.ac.uk/about/terms-of-use/) for additional details.

Score Details

Score Construction
PGS Name CKD_gePGS
Development Method
Name PRS-CS
Parameters PRS-CS-auto, 1000G European sample (N = 503) as the external LD reference panel
Variants
Original Genome Build GRCh37
Number of Variants 1,117,375
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000619
Citation (link to publication) Mandla R et al. Genome Med (2024)
Ancestry Distribution
Source of Variant
Associations (GWAS)
Multi-ancestry (including European): 100%
  • European
  • Not Reported
625,219 individuals (100%)
Score Development/Training
European: 84%
Hispanic or Latin American: 6%
African: 4.9%
East Asian: 1.7%
Not Reported: 1.5%
South Asian: 1.1%
Greater Middle Eastern: 0.9%
53,555 individuals (100%)
PGS Evaluation
Multi-ancestry (including European): 100%
  • East Asian
  • South Asian
  • Greater Middle Eastern
  • Not Reported
  • European
  • Hispanic or Latin American
  • African
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST008064
Europe PMC: 31152163
 625,219 individuals European, NR NR
Score Development/Training
Study Identifiers Sample Numbers Sample Ancestry Cohort(s) Phenotype Definitions & Methods Age of Study Participants Participant Follow-up Time Additional Ancestry Description Additional Sample/Cohort Information
— 44,964 individuals European MGBB — — — — —
— 3,199 individuals Hispanic or Latin American MGBB — — — — —
— 2,628 individuals African unspecified MGBB — — — — —
— 902 individuals East Asian MGBB — — — — —
— 573 individuals South Asian MGBB — — — — —
— 464 individuals Greater Middle Eastern (Middle Eastern, North African or Persian) MGBB — — — — —
— 825 individuals Not reported MGBB — — — — —

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) 		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
PPM021269 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 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
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 —