| Trait Information | |
| Identifier | MONDO_0023603 |
| Description | An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome. [NCIT: C97075] | Trait category |
Other disease
|
| Synonyms |
4 synonyms
|
| Child trait(s) | 4 child traits |
| 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) |
|---|---|---|---|---|---|---|
| PGS000196 (G-PROB_SLE) |
PGP000081 | Knevel R et al. Sci Transl Med (2020) |
Systemic lupus erythematosus | systemic lupus erythematosus | 55 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000196/ScoringFiles/PGS000196.txt.gz |
| PGS000328 (GRS_SLE) |
PGP000099 | Reid S et al. Ann Rheum Dis (2019) |
Systemic lupus erythematosus | systemic lupus erythematosus | 57 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000328/ScoringFiles/PGS000328.txt.gz |
| PGS000754 (PRS_SLE) |
PGP000160 | Wang YF et al. Nat Commun (2021) |
Systemic lupus erythematosus | systemic lupus erythematosus | 293,684 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000754/ScoringFiles/PGS000754.txt.gz |
| PGS000771 (GRS95_SLEmain) |
PGP000178 | Chen L et al. Hum Mol Genet (2020) |
Systemic lupus erythematosus | systemic lupus erythematosus | 95 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000771/ScoringFiles/PGS000771.txt.gz | |
| PGS000772 (GRS95_SLEgen) |
PGP000178 | Chen L et al. Hum Mol Genet (2020) |
Systemic lupus erythematosus | systemic lupus erythematosus | 95 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000772/ScoringFiles/PGS000772.txt.gz | |
| PGS000803 (wGRS41_SLE) |
PGP000192 | Kawai VK et al. Lupus (2021) |
Systemic lupus erythematosus | systemic lupus erythematosus | 41 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000803/ScoringFiles/PGS000803.txt.gz |
| PGS001032 (GBE_HC31) |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Uterine fibroids | uterine corpus leiomyoma | 161 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001032/ScoringFiles/PGS001032.txt.gz |
| PGS001810 (portability-PLR_200.1) |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Polycythemia vera | acquired polycythemia vera | 67 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001810/ScoringFiles/PGS001810.txt.gz |
| PGS002263 (PRS_UF) |
PGP000291 | Piekos JA et al. Hum Genet (2022) |
Uterine fibroids | uterine corpus leiomyoma | 4,457 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002263/ScoringFiles/PGS002263.txt.gz | |
| PGS003755 (wGRS_SLE) |
PGP000475 | Kwon YC et al. Arthritis Rheumatol (2023) |
Systemic lupus erythematosus | systemic lupus erythematosus | 122 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003755/ScoringFiles/PGS003755.txt.gz |
| PGS003756 (wGRS_SLE_non-HLA) |
PGP000475 | Kwon YC et al. Arthritis Rheumatol (2023) |
Systemic lupus erythematosus | systemic lupus erythematosus | 112 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003756/ScoringFiles/PGS003756.txt.gz |
| PGS003757 (wGRS_SLE_HLA) |
PGP000475 | Kwon YC et al. Arthritis Rheumatol (2023) |
Systemic lupus erythematosus | systemic lupus erythematosus | 10 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003757/ScoringFiles/PGS003757.txt.gz |
| PGS003960 (GRS57_SLE) |
PGP000509 | Barnado A et al. Arthritis Rheumatol (2023) |
Systemic lupus erythematosus | systemic lupus erythematosus | 57 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003960/ScoringFiles/PGS003960.txt.gz |
| PGS004917 (wGRS) |
PGP000648 | Cui J et al. Arthritis Rheumatol (2020) |
Systemic lupus erythematosus | systemic lupus erythematosus | 97 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004917/ScoringFiles/PGS004917.txt.gz |
| PGS018625 (TPMI_218.1_Lassosum2) |
PGP000835 | Chen HH et al. Nature (2025) |
Uterine leiomyoma | uterine corpus leiomyoma | 2,512 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018625/ScoringFiles/PGS018625.txt.gz | |
| PGS018626 (TPMI_218.1_LDpred2) |
PGP000835 | Chen HH et al. Nature (2025) |
Uterine leiomyoma | uterine corpus leiomyoma | 270,998 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018626/ScoringFiles/PGS018626.txt.gz | |
| PGS018627 (TPMI_218.1_MegaPRS) |
PGP000835 | Chen HH et al. Nature (2025) |
Uterine leiomyoma | uterine corpus leiomyoma | 34,428 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018627/ScoringFiles/PGS018627.txt.gz | |
| PGS018628 (TPMI_218.1_PRS-CS) |
PGP000835 | Chen HH et al. Nature (2025) |
Uterine leiomyoma | uterine corpus leiomyoma | 983,780 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018628/ScoringFiles/PGS018628.txt.gz | |
| PGS018629 (TPMI_218.1_SBayesR) |
PGP000835 | Chen HH et al. Nature (2025) |
Uterine leiomyoma | uterine corpus leiomyoma | 976,959 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018629/ScoringFiles/PGS018629.txt.gz | |
| PGS018816 (TPMI_274_Lassosum2) |
PGP000835 | Chen HH et al. Nature (2025) |
Gout and other crystal arthropathies | chondrocalcinosis 2 | 7,370 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018816/ScoringFiles/PGS018816.txt.gz | |
| PGS018817 (TPMI_274_LDpred2) |
PGP000835 | Chen HH et al. Nature (2025) |
Gout and other crystal arthropathies | chondrocalcinosis 2 | 939,841 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018817/ScoringFiles/PGS018817.txt.gz | |
| PGS018818 (TPMI_274_MegaPRS) |
PGP000835 | Chen HH et al. Nature (2025) |
Gout and other crystal arthropathies | chondrocalcinosis 2 | 483,537 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018818/ScoringFiles/PGS018818.txt.gz | |
| PGS018819 (TPMI_274_PRS-CS) |
PGP000835 | Chen HH et al. Nature (2025) |
Gout and other crystal arthropathies | chondrocalcinosis 2 | 983,787 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018819/ScoringFiles/PGS018819.txt.gz | |
| PGS018820 (TPMI_274_PRSmix+) |
PGP000835 | Chen HH et al. Nature (2025) |
Gout and other crystal arthropathies | chondrocalcinosis 2 | 1,071,466 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018820/ScoringFiles/PGS018820.txt.gz | |
| PGS018821 (TPMI_274_SBayesR) |
PGP000835 | Chen HH et al. Nature (2025) |
Gout and other crystal arthropathies | chondrocalcinosis 2 | 898,949 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018821/ScoringFiles/PGS018821.txt.gz | |
| PGS019593 (TPMI_695.4_Lassosum2) |
PGP000835 | Chen HH et al. Nature (2025) |
Lupus localized and systemic | systemic lupus erythematosus | 4,048 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019593/ScoringFiles/PGS019593.txt.gz | |
| PGS019594 (TPMI_695.4_LDpred2) |
PGP000835 | Chen HH et al. Nature (2025) |
Lupus localized and systemic | systemic lupus erythematosus | 939,805 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019594/ScoringFiles/PGS019594.txt.gz | |
| PGS019595 (TPMI_695.4_MegaPRS) |
PGP000835 | Chen HH et al. Nature (2025) |
Lupus localized and systemic | systemic lupus erythematosus | 351,328 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019595/ScoringFiles/PGS019595.txt.gz | |
| PGS019596 (TPMI_695.4_PRS-CS) |
PGP000835 | Chen HH et al. Nature (2025) |
Lupus localized and systemic | systemic lupus erythematosus | 983,762 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019596/ScoringFiles/PGS019596.txt.gz | |
| PGS019597 (TPMI_695.4_PRSmix+) |
PGP000835 | Chen HH et al. Nature (2025) |
Lupus localized and systemic | systemic lupus erythematosus | 1,071,408 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019597/ScoringFiles/PGS019597.txt.gz | |
| PGS019598 (TPMI_695.4_SBayesR) |
PGP000835 | Chen HH et al. Nature (2025) |
Lupus localized and systemic | systemic lupus erythematosus | 93,337 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019598/ScoringFiles/PGS019598.txt.gz | |
| PGS019599 (TPMI_695.42_Lassosum2) |
PGP000835 | Chen HH et al. Nature (2025) |
Systemic lupus erythematosus | systemic lupus erythematosus | 3,935 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019599/ScoringFiles/PGS019599.txt.gz | |
| PGS019600 (TPMI_695.42_LDpred2) |
PGP000835 | Chen HH et al. Nature (2025) |
Systemic lupus erythematosus | systemic lupus erythematosus | 939,805 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019600/ScoringFiles/PGS019600.txt.gz | |
| PGS019601 (TPMI_695.42_MegaPRS) |
PGP000835 | Chen HH et al. Nature (2025) |
Systemic lupus erythematosus | systemic lupus erythematosus | 366,324 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019601/ScoringFiles/PGS019601.txt.gz | |
| PGS019602 (TPMI_695.42_PRS-CS) |
PGP000835 | Chen HH et al. Nature (2025) |
Systemic lupus erythematosus | systemic lupus erythematosus | 983,763 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019602/ScoringFiles/PGS019602.txt.gz | |
| PGS019603 (TPMI_695.42_PRSmix+) |
PGP000835 | Chen HH et al. Nature (2025) |
Systemic lupus erythematosus | systemic lupus erythematosus | 1,071,406 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019603/ScoringFiles/PGS019603.txt.gz | |
| PGS019604 (TPMI_695.42_SBayesR) |
PGP000835 | Chen HH et al. Nature (2025) |
Systemic lupus erythematosus | systemic lupus erythematosus | 93,987 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019604/ScoringFiles/PGS019604.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 |
|---|---|---|---|---|---|---|---|---|---|
| PPM000579 | PGS000196 (G-PROB_SLE) |
PSS000319| European Ancestry| 243 individuals |
PGP000081 | Knevel R et al. Sci Transl Med (2020) |
Reported Trait: Systemic lupus erythematosus diagnosis in patient with arthritis | — | AUROC: 0.61 [0.27, 0.86] | — | — | (Setting III: Selecting patients presenting with inflammatory arthritis at their first visit) |
| PPM000573 | PGS000196 (G-PROB_SLE) |
PSS000318| European Ancestry| 245 individuals |
PGP000081 | Knevel R et al. Sci Transl Med (2020) |
Reported Trait: Systemic lupus erythematosus diagnosis in patient with arthritis | — | AUROC: 0.79 [0.72, 0.85] | — | — | (Setting II: Assigning patient diagnoses based on medical records) |
| PPM000567 | PGS000196 (G-PROB_SLE) |
PSS000324| Multi-ancestry (including European)| 1,211 individuals |
PGP000081 | Knevel R et al. Sci Transl Med (2020) |
Reported Trait: Systemic lupus erythematosus diagnosis in patient with arthritis | — | AUROC: 0.74 [0.7, 0.78] | — | — | (Setting I: Assigning patient diagnoses based on billing codes) |
| PPM000882 | PGS000328 (GRS_SLE) |
PSS000438| European Ancestry| 15,383 individuals |
PGP000099 | Reid S et al. Ann Rheum Dis (2019) |
Reported Trait: Systemic lupus erythematosus | — | AUROC: 0.71 | Odds Ratio (OR; highest vs. lowest quartile): 7.48 [6.73, 8.32] | — | — |
| PPM000880 | PGS000328 (GRS_SLE) |
PSS000436| European Ancestry| 3,803 individuals |
PGP000099 | Reid S et al. Ann Rheum Dis (2019) |
Reported Trait: Systemic lupus erythematosus | — | AUROC: 0.78 | Odds Ratio (OR; highest vs. lowest quartile): 12.32 [9.53, 15.71] | — | — |
| PPM000883 | PGS000328 (GRS_SLE) |
PSS000436| European Ancestry| 3,803 individuals |
PGP000099 | Reid S et al. Ann Rheum Dis (2019) |
Reported Trait: Systemic Lupus damage score (SDI) | OR: 1.13 [1.03, 1.24] | — | Odds Ratio (OR; highest vs. lowest quartile): 1.47 [1.06, 2.04] | — | — |
| PPM000881 | PGS000328 (GRS_SLE) |
PSS000437| European Ancestry| 1,001 individuals |
PGP000099 | Reid S et al. Ann Rheum Dis (2019) |
Reported Trait: Systemic lupus erythematosus (onset before age 20) | — | AUROC: 0.83 | — | — | — |
| PPM000885 | PGS000328 (GRS_SLE) |
PSS000437| European Ancestry| 1,001 individuals |
PGP000099 | Reid S et al. Ann Rheum Dis (2019) |
Reported Trait: Nephritis in systemic lupus erythematosus patients | — | — | Hazard Ratio (HR; highest vs. lowest quartile): 2.53 [1.72, 3.71] | — | — |
| PPM000884 | PGS000328 (GRS_SLE) |
PSS000436| European Ancestry| 3,803 individuals |
PGP000099 | Reid S et al. Ann Rheum Dis (2019) |
Reported Trait: Systemic lupus erythematosus (age-at-onset) | — | — | Hazard Ratio (HR; highest vs. lowest quartile): 1.47 [1.22, 1.75] | — | — |
| PPM001919 | PGS000754 (PRS_SLE) |
PSS000963| East Asian Ancestry| 2,589 individuals |
PGP000160 | Wang YF et al. Nat Commun (2021) |
Reported Trait: Systemic lupus erythematosus | — | AUROC: 0.76 [0.74, 0.78] | — | — | — |
| PPM001920 | PGS000754 (PRS_SLE) |
PSS000960| European Ancestry| 1,340 individuals |
PGP000160 | Wang YF et al. Nat Commun (2021) |
Reported Trait: Systemic lupus erythematosus | — | AUROC: 0.65 | — | — | — |
| PPM001921 | PGS000754 (PRS_SLE) |
PSS000961| European Ancestry| 7,733 individuals |
PGP000160 | Wang YF et al. Nat Commun (2021) |
Reported Trait: Systemic lupus erythematosus | — | AUROC: 0.65 | — | — | — |
| PPM001922 | PGS000754 (PRS_SLE) |
PSS000962| European Ancestry| 1,112 individuals |
PGP000160 | Wang YF et al. Nat Commun (2021) |
Reported Trait: Systemic lupus erythematosus | — | AUROC: 0.62 | — | — | — |
| PPM002076 | PGS000754 (PRS_SLE) |
PSS001027| Additional Asian Ancestries| 3,996 individuals |
PGP000188 | Tangtanatakul P et al. Arthritis Res Ther (2020) |Ext. |
Reported Trait: Systemic lupus erythematosus | — | AUROC: 0.76 | — | — | — |
| PPM001996 | PGS000771 (GRS95_SLEmain) |
PSS000994| European Ancestry| 524 individuals |
PGP000178 | Chen L et al. Hum Mol Genet (2020) |
Reported Trait: Renal disease age of onset | — | AUROC: 0.576 [0.518, 0.634] | — | — | Renal disease is used as a proxy for systemic lupus erythematosus severity |
| PPM001998 | PGS000771 (GRS95_SLEmain) |
PSS000994| European Ancestry| 524 individuals |
PGP000178 | Chen L et al. Hum Mol Genet (2020) |
Reported Trait: Renal disease age of onset | — | — | Odds Ratio (OR, top 20% vs bottom 20%): 3.155 [1.623, 6.133] | — | Renal disease is used as a proxy for systemic lupus erythematosus severity |
| PPM001997 | PGS000772 (GRS95_SLEgen) |
PSS000993| European Ancestry| 3,101 individuals |
PGP000178 | Chen L et al. Hum Mol Genet (2020) |
Reported Trait: Renal disease | — | — | Odds Ratio (OR, top 20% vs bottom 20%): 1.578 [1.25, 1.991] | — | Renal disease is used as a proxy for systemic lupus erythematosus severity |
| PPM002100 | PGS000803 (wGRS41_SLE) |
PSS001038| European Ancestry| 47,904 individuals |
PGP000192 | Kawai VK et al. Lupus (2021) |
Reported Trait: Lupus (localised and systemic) | OR: 1.73 [1.62, 1.85] β: 0.546 (0.034) |
— | — | PCs(1-5), median age in the electronic health record, sex | — |
| PPM002101 | PGS000803 (wGRS41_SLE) |
PSS001043| European Ancestry| 18,722 individuals |
PGP000192 | Kawai VK et al. Lupus (2021) |
Reported Trait: Lupus (localised and systemic) | OR: 1.82 [1.66, 2.0] | — | — | PCs(1-5), median age in the electronic health record, sex | — |
| PPM002102 | PGS000803 (wGRS41_SLE) |
PSS001035| European Ancestry| 47,917 individuals |
PGP000192 | Kawai VK et al. Lupus (2021) |
Reported Trait: Systemic lupus erythematosus | OR: 1.71 [1.6, 1.82] β: 0.534 (0.034) |
— | — | PCs(1-5), median age in the electronic health record, sex | — |
| PPM002103 | PGS000803 (wGRS41_SLE) |
PSS001040| European Ancestry| 18,698 individuals |
PGP000192 | Kawai VK et al. Lupus (2021) |
Reported Trait: Systemic lupus erythematosus | OR: 1.86 [1.69, 2.04] | — | — | PCs(1-5), median age in the electronic health record, sex | — |
| PPM002104 | PGS000803 (wGRS41_SLE) |
PSS001037| European Ancestry| 50,429 individuals |
PGP000192 | Kawai VK et al. Lupus (2021) |
Reported Trait: Erythematous conditions | OR: 1.28 [1.22, 1.34] β: 0.246 (0.024) |
— | — | PCs(1-5), median age in the electronic health record, sex | — |
| PPM002105 | PGS000803 (wGRS41_SLE) |
PSS001042| European Ancestry| 21,474 individuals |
PGP000192 | Kawai VK et al. Lupus (2021) |
Reported Trait: Erythematous conditions | OR: 1.08 [1.04, 1.13] | — | — | PCs(1-5), median age in the electronic health record, sex | — |
| PPM002106 | PGS000803 (wGRS41_SLE) |
PSS001034| European Ancestry| 47,321 individuals |
PGP000192 | Kawai VK et al. Lupus (2021) |
Reported Trait: Cutaneous lupus erythematosus | OR: 1.79 [1.54, 2.08] β: 0.582 (0.078) |
— | — | PCs(1-5), median age in the electronic health record, sex | — |
| PPM002107 | PGS000803 (wGRS41_SLE) |
PSS001039| European Ancestry| 18,422 individuals |
PGP000192 | Kawai VK et al. Lupus (2021) |
Reported Trait: Cutaneous lupus erythematosus | OR: 2.02 [1.71, 2.4] | — | — | PCs(1-5), median age in the electronic health record, sex | — |
| PPM002108 | PGS000803 (wGRS41_SLE) |
PSS001036| European Ancestry| 40,528 individuals |
PGP000192 | Kawai VK et al. Lupus (2021) |
Reported Trait: Type 1 diabetes | OR: 1.11 [1.06, 1.17] β: 0.108 (0.024) |
— | — | PCs(1-5), median age in the electronic health record, sex | — |
| PPM002109 | PGS000803 (wGRS41_SLE) |
PSS001041| European Ancestry| 19,191 individuals |
PGP000192 | Kawai VK et al. Lupus (2021) |
Reported Trait: Type 1 diabetes | OR: 1.11 [1.05, 1.18] | — | — | PCs(1-5), median age in the electronic health record, sex | — |
| PPM002110 | PGS000803 (wGRS41_SLE) |
PSS001036| European Ancestry| 40,528 individuals |
PGP000192 | Kawai VK et al. Lupus (2021) |
Reported Trait: Type 1 diabetes with renal manifestations | OR: 1.41 [1.26, 1.59] β: 0.346 (0.06) |
— | — | PCs(1-5), median age in the electronic health record, sex | — |
| PPM002111 | PGS000803 (wGRS41_SLE) |
PSS001041| European Ancestry| 19,191 individuals |
PGP000192 | Kawai VK et al. Lupus (2021) |
Reported Trait: Type 1 diabetes with renal manifestations | OR: 1.38 [1.19, 1.6] | — | — | PCs(1-5), median age in the electronic health record, sex | — |
| PPM002112 | PGS000803 (wGRS41_SLE) |
PSS001036| European Ancestry| 40,528 individuals |
PGP000192 | Kawai VK et al. Lupus (2021) |
Reported Trait: Type 1 diabetes with opthalmic manifestations | OR: 1.32 [1.16, 1.5] β: 0.275 (0.065) |
— | — | PCs(1-5), median age in the electronic health record, sex | — |
| PPM002113 | PGS000803 (wGRS41_SLE) |
PSS001041| European Ancestry| 19,191 individuals |
PGP000192 | Kawai VK et al. Lupus (2021) |
Reported Trait: Type 1 diabetes with opthalmic manifestations | OR: 1.34 [1.18, 1.52] | — | — | PCs(1-5), median age in the electronic health record, sex | — |
| PPM002114 | PGS000803 (wGRS41_SLE) |
PSS001036| European Ancestry| 40,528 individuals |
PGP000192 | Kawai VK et al. Lupus (2021) |
Reported Trait: Type 1 diabetes with neurological manifestations | OR: 1.16 [1.06, 1.28] β: 0.151 (0.047) |
— | — | PCs(1-5), median age in the electronic health record, sex | — |
| PPM007923 | PGS001032 (GBE_HC31) |
PSS004432| African Ancestry| 6,497 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: Uterine fibroids | — | AUROC: 0.76646 [0.74986, 0.78306] | R²: 0.19353 Incremental AUROC (full-covars): 0.00769 PGS R2 (no covariates): 0.00167 PGS AUROC (no covariates): 0.52708 [0.49761, 0.55655] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
| PPM007924 | PGS001032 (GBE_HC31) |
PSS004433| East Asian Ancestry| 1,704 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: Uterine fibroids | — | AUROC: 0.78861 [0.72118, 0.85605] | R²: 0.15287 Incremental AUROC (full-covars): -0.00776 PGS R2 (no covariates): 2e-05 PGS AUROC (no covariates): 0.48768 [0.36905, 0.60631] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
| PPM007925 | PGS001032 (GBE_HC31) |
PSS004434| European Ancestry| 24,905 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: Uterine fibroids | — | AUROC: 0.76622 [0.75066, 0.78178] | R²: 0.12754 Incremental AUROC (full-covars): 0.00896 PGS R2 (no covariates): 0.00275 PGS AUROC (no covariates): 0.54817 [0.52052, 0.57581] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
| PPM007926 | PGS001032 (GBE_HC31) |
PSS004435| South Asian Ancestry| 7,831 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: Uterine fibroids | — | AUROC: 0.84627 [0.82086, 0.87168] | R²: 0.18068 Incremental AUROC (full-covars): 0.00364 PGS R2 (no covariates): 0.00384 PGS AUROC (no covariates): 0.55148 [0.49383, 0.60912] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
| PPM007927 | PGS001032 (GBE_HC31) |
PSS004436| European Ancestry| 67,425 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: Uterine fibroids | — | AUROC: 0.78165 [0.77294, 0.79036] | R²: 0.14246 Incremental AUROC (full-covars): 0.00535 PGS R2 (no covariates): 0.00214 PGS AUROC (no covariates): 0.54273 [0.52605, 0.55942] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
| PPM009382 | PGS001810 (portability-PLR_200.1) |
PSS009280| European Ancestry| 19,539 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Polycythemia vera | — | — | Partial Correlation (partial-r): 0.017 [0.003, 0.031] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM009383 | PGS001810 (portability-PLR_200.1) |
PSS009054| European Ancestry| 4,052 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Polycythemia vera | — | — | Partial Correlation (partial-r): 0.0195 [-0.0114, 0.0503] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM009384 | PGS001810 (portability-PLR_200.1) |
PSS008608| European Ancestry| 6,489 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Polycythemia vera | — | — | Partial Correlation (partial-r): 0.026 [0.0016, 0.0503] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM009385 | PGS001810 (portability-PLR_200.1) |
PSS008384| Greater Middle Eastern Ancestry| 1,178 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Polycythemia vera | — | — | Partial Correlation (partial-r): -0.0173 [-0.0748, 0.0404] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM009386 | PGS001810 (portability-PLR_200.1) |
PSS008162| South Asian Ancestry| 6,171 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Polycythemia vera | — | — | Partial Correlation (partial-r): -0.0038 [-0.0288, 0.0212] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM009387 | PGS001810 (portability-PLR_200.1) |
PSS007949| East Asian Ancestry| 1,787 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Polycythemia vera | — | — | Partial Correlation (partial-r): -0.0072 [-0.0538, 0.0395] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM012882 | PGS002263 (PRS_UF) |
PSS009591| European Ancestry| 26,637 individuals |
PGP000291 | Piekos JA et al. Hum Genet (2022) |
Reported Trait: Uterine fibroid | OR: 1.35 [1.34, 1.37] | AUROC: 0.6 [0.58, 0.62] | — | BMI, age, 10 principal components | — |
| PPM012883 | PGS002263 (PRS_UF) |
PSS009591| European Ancestry| 26,637 individuals |
PGP000291 | Piekos JA et al. Hum Genet (2022) |
Reported Trait: Benign neoplasm of uterus | OR: 1.31 [1.26, 1.37] | — | — | BMI, age, 10 principal components | — |
| PPM012884 | PGS002263 (PRS_UF) |
PSS009591| European Ancestry| 26,637 individuals |
PGP000291 | Piekos JA et al. Hum Genet (2022) |
Reported Trait: Uterine leiomyoma | OR: 1.32 [1.26, 1.37] | — | — | BMI, age, 10 principal components | — |
| PPM018525 | PGS003755 (wGRS_SLE) |
PSS011006| East Asian Ancestry| 1,655 individuals |
PGP000475 | Kwon YC et al. Arthritis Rheumatol (2023) |
Reported Trait: Class III/IV lupus nephritis in anti-sm positive systemic lupus erythematosus | — | AUROC: 0.582 [0.496, 0.668] | — | — | — |
| PPM018519 | PGS003755 (wGRS_SLE) |
PSS011006| East Asian Ancestry| 1,655 individuals |
PGP000475 | Kwon YC et al. Arthritis Rheumatol (2023) |
Reported Trait: Childhood-onset systemic lupus erythematosus (onset at age <16 years) | — | — | p: 6.80e-08 | — | — |
| PPM018520 | PGS003755 (wGRS_SLE) |
PSS011006| East Asian Ancestry| 1,655 individuals |
PGP000475 | Kwon YC et al. Arthritis Rheumatol (2023) |
Reported Trait: Number of American College of Rheumatology (ACR) criteria for systemic lupus erythematosus | β: 0.143 [0.078, 0.208] | — | — | Onset age, sex, disease duration, and top 4 principal components | — |
| PPM018523 | PGS003755 (wGRS_SLE) |
PSS011006| East Asian Ancestry| 1,655 individuals |
PGP000475 | Kwon YC et al. Arthritis Rheumatol (2023) |
Reported Trait: Renal disorder | β: 1.22 [1.12, 1.33] | — | — | Onset age, sex, disease duration, and top 4 principal components | — |
| PPM018524 | PGS003755 (wGRS_SLE) |
PSS011006| East Asian Ancestry| 1,655 individuals |
PGP000475 | Kwon YC et al. Arthritis Rheumatol (2023) |
Reported Trait: Production of anti-Sm antibody | β: 1.23 [1.11, 1.36] | — | — | Onset age, sex, disease duration, and top 4 principal components | — |
| PPM018526 | PGS003755 (wGRS_SLE) |
PSS011006| East Asian Ancestry| 1,655 individuals |
PGP000475 | Kwon YC et al. Arthritis Rheumatol (2023) |
Reported Trait: Class V lupus nephritis in anti-sm positive systemic lupus erythematosus | — | AUROC: 0.681 [0.602, 0.76] | — | — | — |
| PPM018521 | PGS003756 (wGRS_SLE_non-HLA) |
PSS011006| East Asian Ancestry| 1,655 individuals |
PGP000475 | Kwon YC et al. Arthritis Rheumatol (2023) |
Reported Trait: Number of American College of Rheumatology (ACR) criteria for systemic lupus erythematosus | β: 0.133 [0.071, 0.194] | — | — | Onset age, sex, disease duration, and top 4 principal components | — |
| PPM018522 | PGS003757 (wGRS_SLE_HLA) |
PSS011006| East Asian Ancestry| 1,655 individuals |
PGP000475 | Kwon YC et al. Arthritis Rheumatol (2023) |
Reported Trait: Number of American College of Rheumatology (ACR) criteria for systemic lupus erythematosus | β: 0.213 [0.079, 0.347] | — | — | Onset age, sex, disease duration, and top 4 principal components | — |
| PPM019115 | PGS003960 (GRS57_SLE) |
PSS011186| Multi-ancestry (including European)| 3,048 individuals |
PGP000509 | Barnado A et al. Arthritis Rheumatol (2023) |
Reported Trait: Systemic lupus erythematosus | — | AUROC: 0.65 [0.63, 0.67] | — | — | — |
| PPM019116 | PGS003960 (GRS57_SLE) |
PSS011188| European Ancestry| 1,994 individuals |
PGP000509 | Barnado A et al. Arthritis Rheumatol (2023) |
Reported Trait: Systemic lupus erythematosus | — | AUROC: 0.63 [0.6, 0.66] | — | — | — |
| PPM019117 | PGS003960 (GRS57_SLE) |
PSS011187| African Ancestry| 902 individuals |
PGP000509 | Barnado A et al. Arthritis Rheumatol (2023) |
Reported Trait: Systemic lupus erythematosus | — | AUROC: 0.5 [0.44, 0.56] | — | — | — |
| PPM019118 | PGS003960 (GRS57_SLE) |
PSS011186| Multi-ancestry (including European)| 3,048 individuals |
PGP000509 | Barnado A et al. Arthritis Rheumatol (2023) |
Reported Trait: Systemic lupus erythematosus | — | AUROC: 0.89 [0.87, 0.9] | — | phenotype risk score | — |
| PPM019119 | PGS003960 (GRS57_SLE) |
PSS011188| European Ancestry| 1,994 individuals |
PGP000509 | Barnado A et al. Arthritis Rheumatol (2023) |
Reported Trait: Systemic lupus erythematosus | — | AUROC: 0.87 [0.85, 0.89] | — | phenotype risk score | — |
| PPM019120 | PGS003960 (GRS57_SLE) |
PSS011187| African Ancestry| 902 individuals |
PGP000509 | Barnado A et al. Arthritis Rheumatol (2023) |
Reported Trait: Systemic lupus erythematosus | — | AUROC: 0.89 [0.86, 0.93] | — | phenotype risk score | — |
| PPM021383 | PGS004917 (wGRS) |
PSS011718| Multi-ancestry (including European)| 3,945 individuals |
PGP000648 | Cui J et al. Arthritis Rheumatol (2020) |
Reported Trait: Systemic lupus erythematosus | OR: 2.01 [1.83, 2.22] β: 0.7 (0.05) |
AUROC: 0.696 | — | — | — |
| PPM036807 | PGS018625 (TPMI_218.1_Lassosum2) |
PSS012523| East Asian Ancestry| 9,417 individuals |
PGP000835 | Chen HH et al. Nature (2025) |
Reported Trait: Uterine leiomyoma | — | AUROC: 0.83022 | R²: 0.23694 | sex, age, array, PCs 1-10 | — |
| PPM036808 | PGS018626 (TPMI_218.1_LDpred2) |
PSS012522| East Asian Ancestry| 9,417 individuals |
PGP000835 | Chen HH et al. Nature (2025) |
Reported Trait: Uterine leiomyoma | — | AUROC: 0.83104 | R²: 0.23821 | sex, age, array, PCs 1-10 | — |
| PPM036809 | PGS018627 (TPMI_218.1_MegaPRS) |
PSS012524| East Asian Ancestry| 9,417 individuals |
PGP000835 | Chen HH et al. Nature (2025) |
Reported Trait: Uterine leiomyoma | — | AUROC: 0.83009 | R²: 0.23677 | sex, age, array, PCs 1-10 | — |
| PPM036810 | PGS018628 (TPMI_218.1_PRS-CS) |
PSS012525| East Asian Ancestry| 9,417 individuals |
PGP000835 | Chen HH et al. Nature (2025) |
Reported Trait: Uterine leiomyoma | — | AUROC: 0.83054 | R²: 0.23802 | sex, age, array, PCs 1-10 | — |
| PPM036811 | PGS018629 (TPMI_218.1_SBayesR) |
PSS012526| East Asian Ancestry| 9,417 individuals |
PGP000835 | Chen HH et al. Nature (2025) |
Reported Trait: Uterine leiomyoma | — | AUROC: 0.83004 | R²: 0.23693 | sex, age, array, PCs 1-10 | — |
| PPM036998 | PGS018816 (TPMI_274_Lassosum2) |
PSS012731| East Asian Ancestry| 19,681 individuals |
PGP000835 | Chen HH et al. Nature (2025) |
Reported Trait: Gout and other crystal arthropathies | — | AUROC: 0.72592 | R²: 0.15189 | sex, age, array, PCs 1-10 | — |
| PPM036999 | PGS018817 (TPMI_274_LDpred2) |
PSS012730| East Asian Ancestry| 19,681 individuals |
PGP000835 | Chen HH et al. Nature (2025) |
Reported Trait: Gout and other crystal arthropathies | — | AUROC: 0.72801 | R²: 0.15577 | sex, age, array, PCs 1-10 | — |
| PPM037000 | PGS018818 (TPMI_274_MegaPRS) |
PSS012732| East Asian Ancestry| 19,681 individuals |
PGP000835 | Chen HH et al. Nature (2025) |
Reported Trait: Gout and other crystal arthropathies | — | AUROC: 0.71916 | R²: 0.13938 | sex, age, array, PCs 1-10 | — |
| PPM037001 | PGS018819 (TPMI_274_PRS-CS) |
PSS012733| East Asian Ancestry| 19,681 individuals |
PGP000835 | Chen HH et al. Nature (2025) |
Reported Trait: Gout and other crystal arthropathies | — | AUROC: 0.72764 | R²: 0.15465 | sex, age, array, PCs 1-10 | — |
| PPM037002 | PGS018820 (TPMI_274_PRSmix+) |
PSS012734| East Asian Ancestry| 19,681 individuals |
PGP000835 | Chen HH et al. Nature (2025) |
Reported Trait: Gout and other crystal arthropathies | — | AUROC: 0.73221 | R²: 0.1608 | sex, age, array, PCs 1-10 | — |
| PPM037003 | PGS018821 (TPMI_274_SBayesR) |
PSS012735| East Asian Ancestry| 19,681 individuals |
PGP000835 | Chen HH et al. Nature (2025) |
Reported Trait: Gout and other crystal arthropathies | — | AUROC: 0.72428 | R²: 0.14877 | sex, age, array, PCs 1-10 | — |
| PPM037775 | PGS019593 (TPMI_695.4_Lassosum2) |
PSS013496| East Asian Ancestry| 18,341 individuals |
PGP000835 | Chen HH et al. Nature (2025) |
Reported Trait: Lupus localized and systemic | — | AUROC: 0.86928 | R²: 0.16491 | sex, age, array, PCs 1-10 | — |
| PPM037776 | PGS019594 (TPMI_695.4_LDpred2) |
PSS013495| East Asian Ancestry| 18,341 individuals |
PGP000835 | Chen HH et al. Nature (2025) |
Reported Trait: Lupus localized and systemic | — | AUROC: 0.87217 | R²: 0.16862 | sex, age, array, PCs 1-10 | — |
| PPM037777 | PGS019595 (TPMI_695.4_MegaPRS) |
PSS013497| East Asian Ancestry| 18,341 individuals |
PGP000835 | Chen HH et al. Nature (2025) |
Reported Trait: Lupus localized and systemic | — | AUROC: 0.86402 | R²: 0.15741 | sex, age, array, PCs 1-10 | — |
| PPM037778 | PGS019596 (TPMI_695.4_PRS-CS) |
PSS013498| East Asian Ancestry| 18,341 individuals |
PGP000835 | Chen HH et al. Nature (2025) |
Reported Trait: Lupus localized and systemic | — | AUROC: 0.8675 | R²: 0.16203 | sex, age, array, PCs 1-10 | — |
| PPM037779 | PGS019597 (TPMI_695.4_PRSmix+) |
PSS013499| East Asian Ancestry| 18,341 individuals |
PGP000835 | Chen HH et al. Nature (2025) |
Reported Trait: Lupus localized and systemic | — | AUROC: 0.87785 | R²: 0.17391 | sex, age, array, PCs 1-10 | — |
| PPM037780 | PGS019598 (TPMI_695.4_SBayesR) |
PSS013500| East Asian Ancestry| 18,341 individuals |
PGP000835 | Chen HH et al. Nature (2025) |
Reported Trait: Lupus localized and systemic | — | AUROC: 0.86676 | R²: 0.15951 | sex, age, array, PCs 1-10 | — |
| PPM037781 | PGS019599 (TPMI_695.42_Lassosum2) |
PSS013490| East Asian Ancestry| 18,328 individuals |
PGP000835 | Chen HH et al. Nature (2025) |
Reported Trait: Systemic lupus erythematosus | — | AUROC: 0.87303 | R²: 0.16342 | sex, age, array, PCs 1-10 | — |
| PPM037782 | PGS019600 (TPMI_695.42_LDpred2) |
PSS013489| East Asian Ancestry| 18,328 individuals |
PGP000835 | Chen HH et al. Nature (2025) |
Reported Trait: Systemic lupus erythematosus | — | AUROC: 0.87535 | R²: 0.1665 | sex, age, array, PCs 1-10 | — |
| PPM037783 | PGS019601 (TPMI_695.42_MegaPRS) |
PSS013491| East Asian Ancestry| 18,328 individuals |
PGP000835 | Chen HH et al. Nature (2025) |
Reported Trait: Systemic lupus erythematosus | — | AUROC: 0.86743 | R²: 0.15497 | sex, age, array, PCs 1-10 | — |
| PPM037784 | PGS019602 (TPMI_695.42_PRS-CS) |
PSS013492| East Asian Ancestry| 18,328 individuals |
PGP000835 | Chen HH et al. Nature (2025) |
Reported Trait: Systemic lupus erythematosus | — | AUROC: 0.87012 | R²: 0.15989 | sex, age, array, PCs 1-10 | — |
| PPM037785 | PGS019603 (TPMI_695.42_PRSmix+) |
PSS013493| East Asian Ancestry| 18,328 individuals |
PGP000835 | Chen HH et al. Nature (2025) |
Reported Trait: Systemic lupus erythematosus | — | AUROC: 0.88213 | R²: 0.17211 | sex, age, array, PCs 1-10 | — |
| PPM037786 | PGS019604 (TPMI_695.42_SBayesR) |
PSS013494| East Asian Ancestry| 18,328 individuals |
PGP000835 | Chen HH et al. Nature (2025) |
Reported Trait: Systemic lupus erythematosus | — | AUROC: 0.87186 | R²: 0.1582 | sex, age, array, PCs 1-10 | — |
|
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 |
|---|---|---|---|---|---|---|---|---|
| PSS001027 | Cases were individuals with systemic lupus erythematosus (SLE). All cases were carefully recruited regarding the criteria from the American College of Rheumatology (ACR). Controls included healthy individuals and individuals who had unrelated diseases including: breast cancer, periodontitis, tuberculosis, drug-induced liver injury, epileptic encephalopathy, dengue hemorrhagic fever, thalassemia, and cardiomyopathy. | — | [ ,
40.31 % Male samples |
— | South East Asian (Thai) |
— | NR | Cases were recruited from King Chulalongkorn Memorial Hospital and the Rheumatology clinic at Ramathbodi hospital. Control data was provided by the Department of Medical Science, Min- istry of Public Health, Thailand. |
| PSS004432 | — | — | [
|
— | African unspecified | — | UKB | — |
| PSS004433 | — | — | [
|
— | East Asian | — | UKB | — |
| PSS004434 | — | — | [
|
— | European | non-white British ancestry | UKB | — |
| PSS004435 | — | — | [
|
— | South Asian | — | UKB | — |
| PSS004436 | — | — | [
|
— | European | white British ancestry | UKB | Testing cohort (heldout set) |
| PSS008384 | — | — | 1,178 individuals | — | Greater Middle Eastern (Middle Eastern, North African or Persian) | Iran (Middle East) | UKB | — |
| PSS009054 | — | — | 4,052 individuals | — | European | Poland (NE Europe) | UKB | — |
| PSS011006 | — | — | 1,655 individuals, 8.4 % Male samples |
Mean = 38.1 years Sd = 12.5 years |
East Asian (Korean) |
— | NR | — |
| PSS008162 | — | — | 6,171 individuals | — | South Asian | India (South Asia) | UKB | — |
| PSS000960 | Cases were individuals with systemic lupus erythematosus. | — | [
|
— | European | — | NR | — |
| PSS000961 | Cases were individuals with systemic lupus erythematosus. | — | [
|
— | European | — | NR | — |
| PSS000962 | Cases were individuals with systemic lupus erythematosus. | — | [
|
— | European | — | NR | — |
| PSS000963 | Cases were individuals with systemic lupus erythematosus. | — | [
|
— | East Asian (Han Chinese) |
— | NR | — |
| PSS013489 | 710.0,M32 | — | [ ,
46.04 % Male samples |
— | East Asian (Han Chinese) |
— | TPMI | — |
| PSS001034 | Cases were individuals with cutaneous lupus erythematosus. Cases were identified by extracting clinical diagnoses from the electronic health record using the 9th and 10th International Statistical Classification of Diseases and Related Health Problems (ICD) Clinical Modification (CM) codes that mapped to the phenotype and transformed these ICD9/ICD10 codes into phecodes, which aggregate one or more related ICD codes into distinct diseases or traits. For each phenotype, cases were defined as individuals with 2 or more instances of the specific phecode in the electronic health record. Phecodes for lupus related disorders (systemic and cutaneous) include: 695.4, 695.41, 696.42. | — | [
|
— | European | — | BioVU | — |
| PSS000318 | Setting II: Based on ICD codes and review of medical records from Partners HealthCare Biobank; controls = other non-matching arthritis diseases | Median = 8.0 years | [ ,
32.0 % Male samples |
— | European | — | PHB | — |
| PSS000319 | Setting III: Based on ICD codes and final diagnosis in medical records from Partners HealthCare Biobank; controls = other non-matching arthritis diseases | Median = 7.0 years | [ ,
32.0 % Male samples |
— | European | — | PHB | — |
| PSS001035 | Cases were individuals with systemic lupus erythematosus. Cases were identified by extracting clinical diagnoses from the electronic health record using the 9th and 10th International Statistical Classification of Diseases and Related Health Problems (ICD) Clinical Modification (CM) codes that mapped to the phenotype and transformed these ICD9/ICD10 codes into phecodes, which aggregate one or more related ICD codes into distinct diseases or traits. For each phenotype, cases were defined as individuals with 2 or more instances of the specific phecode in the electronic health record. Phecodes for lupus related disorders (systemic and cutaneous) include: 695.4, 695.41, 696.42. | — | [
|
— | European | — | BioVU | — |
| PSS001038 | Cases were individuals with lupus (localised and systemic). Cases were identified by extracting clinical diagnoses from the electronic health record using the 9th and 10th International Statistical Classification of Diseases and Related Health Problems (ICD) Clinical Modification (CM) codes that mapped to the phenotype and transformed these ICD9/ICD10 codes into phecodes, which aggregate one or more related ICD codes into distinct diseases or traits. For each phenotype, cases were defined as individuals with 2 or more instances of the specific phecode in the electronic health record. Phecodes for lupus related disorders (systemic and cutaneous) include: 695.4, 695.41, 696.42. | — | [
|
— | European | — | BioVU | — |
| PSS001037 | Cases were individuals with erythematosus conditions. Cases were identified by extracting clinical diagnoses from the electronic health record using the 9th and 10th International Statistical Classification of Diseases and Related Health Problems (ICD) Clinical Modification (CM) codes that mapped to the phenotype and transformed these ICD9/ICD10 codes into phecodes, which aggregate one or more related ICD codes into distinct diseases or traits. For each phenotype, cases were defined as individuals with 2 or more instances of the specific phecode in the electronic health record. Phecodes for lupus related disorders (systemic and cutaneous) include: 695.4, 695.41, 696.42. | — | [
|
— | European | — | BioVU | — |
| PSS001040 | Cases were individuals with systemic lupus erythematosus. Cases were identified by extracting clinical diagnoses from the electronic health record using the 9th and 10th International Statistical Classification of Diseases and Related Health Problems (ICD) Clinical Modification (CM) codes that mapped to the phenotype and transformed these ICD9/ICD10 codes into phecodes, which aggregate one or more related ICD codes into distinct diseases or traits. For each phenotype, cases were defined as individuals with 2 or more instances of the specific phecode in the electronic health record. Phecodes for lupus related disorders (systemic and cutaneous) include: 695.4, 695.41, 696.42. | — | [
|
— | European | — | eMERGE | — |
| PSS000324 | Setting I: Based on ICD codes and expert opinion (ACR2010 criteria), in eMERGE network EMR database from Stanaway 2018; controls = other non-matching arthritis diseases | Median = 16.0 years | [ ,
43.0 % Male samples |
— | European, African unspecified, Asian unspecified, NR | Primarily European, African and Asian ancestry | eMERGE | — |
| PSS001042 | Cases were individuals with erythematosus conditions. Cases were identified by extracting clinical diagnoses from the electronic health record using the 9th and 10th International Statistical Classification of Diseases and Related Health Problems (ICD) Clinical Modification (CM) codes that mapped to the phenotype and transformed these ICD9/ICD10 codes into phecodes, which aggregate one or more related ICD codes into distinct diseases or traits. For each phenotype, cases were defined as individuals with 2 or more instances of the specific phecode in the electronic health record. Phecodes for lupus related disorders (systemic and cutaneous) include: 695.4, 695.41, 696.42. | — | [
|
— | European | — | eMERGE | — |
| PSS001043 | Cases were individuals with lupus (localised and systemic). Cases were identified by extracting clinical diagnoses from the electronic health record using the 9th and 10th International Statistical Classification of Diseases and Related Health Problems (ICD) Clinical Modification (CM) codes that mapped to the phenotype and transformed these ICD9/ICD10 codes into phecodes, which aggregate one or more related ICD codes into distinct diseases or traits.For each phenotype, cases were defined as individuals with 2 or more instances of the specific phecode in the electronic health record.Phecodes for lupus related disorders (systemic and cutaneous) include: 695.4, 695.41, 696.42. | — | [
|
— | European | — | eMERGE | — |
| PSS001039 | Cases were individuals with cutaneous lupus erythematosus. Cases were identified by extracting clinical diagnoses from the electronic health record using the 9th and 10th International Statistical Classification of Diseases and Related Health Problems (ICD) Clinical Modification (CM) codes that mapped to the phenotype and transformed these ICD9/ICD10 codes into phecodes, which aggregate one or more related ICD codes into distinct diseases or traits. For each phenotype, cases were defined as individuals with 2 or more instances of the specific phecode in the electronic health record. Phecodes for lupus related disorders (systemic and cutaneous) include: 695.4, 695.41, 696.42. | — | [
|
— | European | — | eMERGE | — |
| PSS001036 | Cases were individuals with type 1 diabetes. Cases were identified by extracting clinical diagnoses from the electronic health record using the 9th and 10th International Statistical Classification of Diseases and Related Health Problems (ICD) Clinical Modification (CM) codes that mapped to the phenotype and transformed these ICD9/ICD10 codes into phecodes, which aggregate one or more related ICD codes into distinct diseases or traits. For each phenotype, cases were defined as individuals with 2 or more instances of the specific phecode in the electronic health record. Phecodes for type 1 diabetes include: 250.1. Of all the type 1 diabetes cases, 276 had renal manifestations, 240 had ophthalmic manifestations and 475 had neurological manifestations | — | [
|
— | European | — | BioVU | — |
| PSS001041 | Cases were individuals with type 1 diabetes. Cases were identified by extracting clinical diagnoses from the electronic health record using the 9th and 10th International Statistical Classification of Diseases and Related Health Problems (ICD) Clinical Modification (CM) codes that mapped to the phenotype and transformed these ICD9/ICD10 codes into phecodes, which aggregate one or more related ICD codes into distinct diseases or traits. For each phenotype, cases were defined as individuals with 2 or more instances of the specific phecode in the electronic health record. Phecodes for type 1 diabetes include: 250.1. Of the type 1 diabetes cases 165 had renal manifestations, 230 had ophthalmic manifestations and 218 had neurological manifestations. | — | [
|
— | European | — | eMERGE | — |
| PSS009591 | — | — | 26,637 individuals, 0.0 % Male samples |
Mean = 67.04 years Sd = 19.14 years |
European (White) |
— | eMERGE | — |
| PSS013496 | 373.34, 695.4, 710.0,H01.12, L93, M32 | — | [ ,
46.02 % Male samples |
— | East Asian (Han Chinese) |
— | TPMI | — |
| PSS012730 | 274, 712,M10, M11.00, M11.01, M11.02, M11.03, M11.04, M11.05, M11.06, M11.07, M11.08, M11.09, M11.1, M11.2, M11.8, M11.9, M1A | — | [ ,
45.75 % Male samples |
— | East Asian (Han Chinese) |
— | TPMI | — |
| PSS012731 | 274, 712,M10, M11.00, M11.01, M11.02, M11.03, M11.04, M11.05, M11.06, M11.07, M11.08, M11.09, M11.1, M11.2, M11.8, M11.9, M1A | — | [ ,
45.75 % Male samples |
— | East Asian (Han Chinese) |
— | TPMI | — |
| PSS012732 | 274, 712,M10, M11.00, M11.01, M11.02, M11.03, M11.04, M11.05, M11.06, M11.07, M11.08, M11.09, M11.1, M11.2, M11.8, M11.9, M1A | — | [ ,
45.75 % Male samples |
— | East Asian (Han Chinese) |
— | TPMI | — |
| PSS012733 | 274, 712,M10, M11.00, M11.01, M11.02, M11.03, M11.04, M11.05, M11.06, M11.07, M11.08, M11.09, M11.1, M11.2, M11.8, M11.9, M1A | — | [ ,
45.75 % Male samples |
— | East Asian (Han Chinese) |
— | TPMI | — |
| PSS012734 | 274, 712,M10, M11.00, M11.01, M11.02, M11.03, M11.04, M11.05, M11.06, M11.07, M11.08, M11.09, M11.1, M11.2, M11.8, M11.9, M1A | — | [ ,
45.75 % Male samples |
— | East Asian (Han Chinese) |
— | TPMI | — |
| PSS012735 | 274, 712,M10, M11.00, M11.01, M11.02, M11.03, M11.04, M11.05, M11.06, M11.07, M11.08, M11.09, M11.1, M11.2, M11.8, M11.9, M1A | — | [ ,
45.75 % Male samples |
— | East Asian (Han Chinese) |
— | TPMI | — |
| PSS011186 | — | — | [
|
— | European | — | BioVU | — |
| PSS011186 | — | — | [
|
— | African unspecified | — | BioVU | — |
| PSS011186 | — | — | [
|
— | Asian unspecified | — | BioVU | — |
| PSS011186 | — | — | [
|
— | Not reported | — | BioVU | — |
| PSS011187 | — | — | [
|
— | African unspecified | — | BioVU | — |
| PSS011188 | — | — | [
|
— | European | — | BioVU | — |
| PSS007949 | — | — | 1,787 individuals | — | East Asian | China (East Asia) | UKB | — |
| PSS013490 | 710.0,M32 | — | [ ,
46.04 % Male samples |
— | East Asian (Han Chinese) |
— | TPMI | — |
| PSS013492 | 710.0,M32 | — | [ ,
46.04 % Male samples |
— | East Asian (Han Chinese) |
— | TPMI | — |
| PSS011718 | Those indicating having received a new systemic lupus erythematosus diagnosis were asked to complete the Connective Tissue Disease Screening Question- naire (12) and to consent to the release of their medical records. Released medical records of all nurses who indicated experi- encing systemic lupus erythematosus symptoms on this questionnaire were independently reviewed by 3 board-certified rheumatologists (EWK, JAS, and KHC). Cases of systemic lupus erythematosus were identified based on the presence of at least 4 criteria from the American College of Rheumatology (ACR) 1997 updated criteria for the classification of SLE and also based on reviewers' consensus. | — | [ ,
0.0 % Male samples |
— | European, Not reported | European (98%) | NHS, NHS2 | — |
| PSS011718 | All patients diagnosed as having systemic lupus erythematosus in the PHB and included in this study met at least 4 of the 11 ACR 1997 updated classification criteria for systemic lupus erythematosus . Cases were identified as those individuals previously included in the Brigham and Women's Hospital Lupus Registry or those with ≥3 Interna- tional Classification of Diseases, Ninth Revision (ICD-9)/ICD-10 codes for systemic lupus erythematosus , each noted ≥30 days apart, followed by medical record review to identify the presence of any of the ACR 1997 criteria for systemic lupus erythematosus. | — | [ ,
9.7 % Male samples |
— | European, Asian unspecified, African unspecified, Not reported | European (68.1%), Asian (4.9%), African (14.2%), Not reported (12.8%) | PHB | — |
| PSS013493 | 710.0,M32 | — | [ ,
46.04 % Male samples |
— | East Asian (Han Chinese) |
— | TPMI | — |
| PSS000993 | All individuals had systemic lupus erythematosus. Cases are individuals that also have renal disease | — | [
|
— | European | — | NR | — |
| PSS000994 | All individuals had systemic lupus erythematosus. Cases are individuals that also have renal disease | — | [
|
— | European | — | NR | Cases and controls obtained by SLEGEN. |
| PSS013494 | 710.0,M32 | — | [ ,
46.04 % Male samples |
— | East Asian (Han Chinese) |
— | TPMI | — |
| PSS013495 | 373.34, 695.4, 710.0,H01.12, L93, M32 | — | [ ,
46.02 % Male samples |
— | East Asian (Han Chinese) |
— | TPMI | — |
| PSS013491 | 710.0,M32 | — | [ ,
46.04 % Male samples |
— | East Asian (Han Chinese) |
— | TPMI | — |
| PSS008608 | — | — | 6,489 individuals | — | European | Italy (South Europe) | UKB | — |
| PSS013497 | 373.34, 695.4, 710.0,H01.12, L93, M32 | — | [ ,
46.02 % Male samples |
— | East Asian (Han Chinese) |
— | TPMI | — |
| PSS013498 | 373.34, 695.4, 710.0,H01.12, L93, M32 | — | [ ,
46.02 % Male samples |
— | East Asian (Han Chinese) |
— | TPMI | — |
| PSS000436 | The discovery cohort included 1001 patients from the University clinics in Uppsala, Linköping, Karolinska Institute (Stockholm), Lund, and from the four northern-most counties in Sweden. All subjects fulfilled ≥4 ACR-82 classification criteria for SLE and were of European descent.30 Clinical data were collected from the patients’ medical files, including SDI scores, the ACR-82 classification criteria, clinical antiphospholipid syndrome (APS) diagnosis, glomerular filtration rate, chronic kidney disease (CKD) stages, ESRD, renal biopsy data and CVE, defined as myocardial infarction, ischaemic cerebrovascular disease or venous thromboembolism (VTE). Control individuals were healthy blood donors from Uppsala (Uppsala Bioresource) and Lund or population based controls from Stockholm and the four northernmost counties of Sweden. | — | [
|
— | European | — | Karolinska, UHU | The discovery cohort included 1001 patients from the University clinics in Uppsala, Linköping, Karolinska Institute (Stockholm), Lund, and from the four northern-most counties in Sweden |
| PSS000437 | The discovery cohort included 1001 patients from the University clinics in Uppsala, Linköping, Karolinska Institute (Stockholm), Lund, and from the four northern-most counties in Sweden. All subjects fulfilled ≥4 ACR-82 classification criteria for SLE and were of European descent.30 Clinical data were collected from the patients’ medical files, including SDI scores, the ACR-82 classification criteria, clinical antiphospholipid syndrome (APS) diagnosis, glomerular filtration rate, chronic kidney disease (CKD) stages, ESRD, renal biopsy data and CVE, defined as myocardial infarction, ischaemic cerebrovascular disease or venous thromboembolism (VTE). | — | [
|
— | European | — | Karolinska, UHU | The discovery cohort included 1001 patients from the University clinics in Uppsala, Linköping, Karolinska Institute (Stockholm), Lund, and from the four northern-most counties in Sweden |
| PSS000438 | — | — | [
|
— | European | — | NR | The replication cohort is described in Langefeld et al. (PMID:28714469) |
| PSS013499 | 373.34, 695.4, 710.0,H01.12, L93, M32 | — | [ ,
46.02 % Male samples |
— | East Asian (Han Chinese) |
— | TPMI | — |
| PSS012522 | 218,D25 | — | [ ,
0.0 % Male samples |
— | East Asian (Han Chinese) |
— | TPMI | — |
| PSS012523 | 218,D25 | — | [ ,
0.0 % Male samples |
— | East Asian (Han Chinese) |
— | TPMI | — |
| PSS012524 | 218,D25 | — | [ ,
0.0 % Male samples |
— | East Asian (Han Chinese) |
— | TPMI | — |
| PSS012525 | 218,D25 | — | [ ,
0.0 % Male samples |
— | East Asian (Han Chinese) |
— | TPMI | — |
| PSS012526 | 218,D25 | — | [ ,
0.0 % Male samples |
— | East Asian (Han Chinese) |
— | TPMI | — |
| PSS013500 | 373.34, 695.4, 710.0,H01.12, L93, M32 | — | [ ,
46.02 % Male samples |
— | East Asian (Han Chinese) |
— | TPMI | — |
| PSS009280 | — | — | 19,539 individuals | — | European | UK (+ Ireland) | UKB | — |