| Predicted Trait | |
| Reported Trait | Systemic lupus erythematosus |
| Mapped Trait(s) | systemic lupus erythematosus (MONDO_0007915) |
| Score Construction | |
| PGS Name | wGRS41_SLE |
| Development Method | |
| Name | Variants significantly associated with systemic lupus erythematosus |
| Parameters | NR |
| Variants | |
| Original Genome Build | NR |
| Number of Variants | 41 |
| Effect Weight Type | log(OR) |
| PGS Source | |
| PGS Catalog Publication (PGP) ID | PGP000192 |
| Citation (link to publication) | Kawai VK et al. Lupus (2021) |
| Ancestry Distribution | |
| Source of Variant Associations (GWAS) | European: 100% 14,267 individuals (100%) |
| PGS Evaluation | European: 100% 10 Sample Sets |
| Study Identifiers | Sample Numbers | Sample Ancestry | Cohort(s) |
|---|---|---|---|
GWAS Catalog: GCST003155 Europe PMC: 26502338 |
14,267 individuals | European | NR |
|
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 |
|---|---|---|---|---|---|---|---|---|
| PPM002100 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | — |
|
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 |
|---|---|---|---|---|---|---|---|---|
| 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 | — |
| 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 | — |
| 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 | — |
| 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 | — |
| 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 | — |
| 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 | — |
| 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 | — |
| 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 | — |
| 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 | — |