Publication Information (EuropePMC) | |
Title | Genome-wide polygenic score to predict chronic kidney disease across ancestries. |
PubMed ID | 35710995(Europe PMC) |
doi | 10.1038/s41591-022-01869-1 |
Publication Date | June 16, 2022 |
Journal | Nat Med |
Author(s) | Khan A, Turchin MC, Patki A, Srinivasasainagendra V, Shang N, Nadukuru R, Jones AC, Malolepsza E, Dikilitas O, Kullo IJ, Schaid DJ, Karlson E, Ge T, Meigs JB, Smoller JW, Lange C, Crosslin DR, Jarvik G, Bhatraju P, Hellwege JN, Chandler P, Torvik LR, Fedotov A, Liu C, Kachulis C, Lennon N, Abul-Husn NS, Cho JH, Ionita-Laza I, Gharavi AG, Chung WK, Hripcsak G, Weng C, Nadkarni G, Irvin MR, Tiwari HK, Kenny EE, Limdi NA, Kiryluk K. |
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) |
---|---|---|---|---|---|---|
PGS002237 (GPS_CKD) |
PGP000269 | Khan A et al. Nat Med (2022) |
Chronic kidney disease (stage 3 or greater) | chronic kidney disease | 471,316 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002237/ScoringFiles/PGS002237.txt.gz |
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 |
---|---|---|---|---|---|---|---|---|---|
PPM012722 | PGS002237 (GPS_CKD) |
PSS009508| European Ancestry| 141,247 individuals |
PGP000269 | Khan A et al. Nat Med (2022) |
Reported Trait: Chronic Kidney Disease (stage 3 or greater) | OR: 1.49 [1.47, 1.5] | AUROC: 0.75 | — | Age, Sex, Diabetes and 4 PCs | — |
PPM012723 | PGS002237 (GPS_CKD) |
PSS009506| African Ancestry| 14,544 individuals |
PGP000269 | Khan A et al. Nat Med (2022) |
Reported Trait: Chronic Kidney Disease (stage 3 or greater) | OR: 1.32 | AUROC: 0.78 | — | Age, Sex, Diabetes and 4 PCs | — |
PPM012724 | PGS002237 (GPS_CKD) |
PSS009509| Hispanic or Latin American Ancestry| 4,264 individuals |
PGP000269 | Khan A et al. Nat Med (2022) |
Reported Trait: Chronic Kidney Disease (stage 3 or greater) | OR: 1.42 [1.29, 1.57] | AUROC: 0.88 | — | Age, Sex, Diabetes and 4 PCs | — |
PPM012725 | PGS002237 (GPS_CKD) |
PSS009507| Additional Asian Ancestries| 10,087 individuals |
PGP000269 | Khan A et al. Nat Med (2022) |
Reported Trait: Chronic Kidney Disease (stage 3 or greater) | OR: 1.56 [1.43, 1.69] | AUROC: 0.79 | — | Age, Sex, Diabetes and 4 PCs | — |
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 |
---|---|---|---|---|---|---|---|---|
PSS009506 | eGFR<60 mL/min/1.73m2 used to define CKD (stage 3 or greater) | — | [ ,
0.61 % Male samples |
Mean = 61.0 years | African unspecified | — | 7 cohorts
|
— |
PSS009507 | eGFR<60 mL/min/1.73m2 used to define CKD (stage 3 or greater) | — | [ ,
0.51 % Male samples |
Mean = 58.0 years | Asian unspecified | — | BioMe, UKB, eMERGE | — |
PSS009508 | eGFR<60 mL/min/1.73m2 used to define CKD (stage 3 or greater) | — | [ ,
0.5 % Male samples |
Mean = 61.59 years | European | — | BioMe, UKB, eMERGE | — |
PSS009509 | eGFR<60 mL/min/1.73m2 used to define CKD (stage 3 or greater) | — | [ ,
0.51 % Male samples |
Mean = 64.0 years | Hispanic or Latin American | — | BioMe, UKB, eMERGE | — |