| Publication Information (EuropePMC) | |
| Title | Interactions Between Genome-Wide Genetic Factors and Smoking Influencing Risk of Systemic Lupus Erythematosus. |
| PubMed ID | 32969204(Europe PMC) |
| doi | 10.1002/art.41414 |
| Publication Date | Sept. 23, 2020 |
| Journal | Arthritis Rheumatol |
| Author(s) | Cui J, Raychaudhuri S, Karlson EW, Speyer C, Malspeis S, Guan H, Sparks JA, Ni H, Liu X, Stevens E, Williams JN, Davenport EE, Knevel R, Costenbader KH. |
| 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) |
|---|---|---|---|---|---|---|
| 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 |
|
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 |
|---|---|---|---|---|---|---|---|---|---|
| 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 | — | — | — |
|
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 |
|---|---|---|---|---|---|---|---|---|
| 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 | — |