| Experimental Factor Ontology (EFO) Information | |
| Identifier | EFO_0000274 |
| Description | A common chronic pruritic inflammatory skin disease with a strong genetic component. Onset typically occurs during the first 2 years of life. [OMIM: 603165] | Trait category |
Immune system disorder
|
| Synonyms |
30 synonyms
|
| Mapped terms |
22 mapped terms
|
| 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) |
|---|---|---|---|---|---|---|
| PGS001773 (PRS_atopicDermatitis) |
PGP000253 | Simard M et al. J Allergy Clin Immunol (2020) |
Moderate-to-severe atopic dermatitis | atopic eczema | 25 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001773/ScoringFiles/PGS001773.txt.gz |
| PGS002755 (Atopic_dermatitis_prscs) |
PGP000364 | Mars N et al. Am J Hum Genet (2022) |
Atopic dermatitis | atopic eczema | 1,090,702 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002755/ScoringFiles/PGS002755.txt.gz |
| PGS003459 (PRS_CO) |
PGP000451 | Al-Janabi A et al. J Invest Dermatol (2023) |
Atopic eczema or atopic disease | atopic eczema, allergic disease |
170 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003459/ScoringFiles/PGS003459.txt.gz |
| PGS003486 (PRS_AE) |
PGP000451 | Al-Janabi A et al. J Invest Dermatol (2023) |
Atopic eczema | atopic eczema | 71 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003486/ScoringFiles/PGS003486.txt.gz |
| PGS004587 (PRS23_AD) |
PGP000566 | Gu X et al. Ecotoxicol Environ Saf (2023) |
Atopic dermatitis | atopic eczema | 23 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004587/ScoringFiles/PGS004587.txt.gz |
| PGS004903 (PRS_ALL) |
PGP000633 | Al-Janabi A et al. J Allergy Clin Immunol (2023) |
Atopic dermatitis | atopic eczema | 38 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004903/ScoringFiles/PGS004903.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 |
|---|---|---|---|---|---|---|---|---|---|
| PPM009229 | PGS001773 (PRS_atopicDermatitis) |
PSS007661| Multi-ancestry (including European)| 676 individuals |
PGP000253 | Simard M et al. J Allergy Clin Immunol (2020) |
Reported Trait: Moderate-to-severe aotpic dermatitis | — | AUROC: 0.93 | R²: 0.49 | Age, sex, father's ethnicity, mother ethnicity | Nagelkerke's R^2, only unrelated individuals were considered in the analyses |
| PPM009230 | PGS001773 (PRS_atopicDermatitis) |
PSS007661| Multi-ancestry (including European)| 676 individuals |
PGP000253 | Simard M et al. J Allergy Clin Immunol (2020) |
Reported Trait: Food allergy | — | AUROC: 0.75 | — | Age, sex, father's ethnicity, mother ethnicity | Only unrelated individuals were considered in the analyses |
| PPM009231 | PGS001773 (PRS_atopicDermatitis) |
PSS007661| Multi-ancestry (including European)| 676 individuals |
PGP000253 | Simard M et al. J Allergy Clin Immunol (2020) |
Reported Trait: Allergic asthma | — | AUROC: 0.75 | — | Age, sex, father's ethnicity, mother ethnicity | Only unrelated individuals were considered in the analyses |
| PPM009232 | PGS001773 (PRS_atopicDermatitis) |
PSS007661| Multi-ancestry (including European)| 676 individuals |
PGP000253 | Simard M et al. J Allergy Clin Immunol (2020) |
Reported Trait: Allergic rhinitis | — | AUROC: 0.77 | — | Age, sex, father's ethnicity, mother ethnicity | Only unrelated individuals were considered in the analyses |
| PPM014955 | PGS002755 (Atopic_dermatitis_prscs) |
PSS009939| European Ancestry| 39,444 individuals |
PGP000364 | Mars N et al. Am J Hum Genet (2022) |
Reported Trait: Atopic dermatitis | OR: 1.28 [1.21, 1.34] | — | — | age, sex, 10 PCs, technical covariates | — |
| PPM020709 | PGS002755 (Atopic_dermatitis_prscs) |
PSS011376| European Ancestry| 337,910 individuals |
PGP000566 | Gu X et al. Ecotoxicol Environ Saf (2023) |Ext. |
Reported Trait: Incident atopic dermatitis | — | — | Hazard ratio (HR, high vs low PRS): 1.249 [1.123, 1.391] | sex, age, Townsend index, moderate physical and household income | — |
| PPM020710 | PGS002755 (Atopic_dermatitis_prscs) |
PSS011376| European Ancestry| 337,910 individuals |
PGP000566 | Gu X et al. Ecotoxicol Environ Saf (2023) |Ext. |
Reported Trait: Incident atopic dermatitis with air pollution level | — | — | Hazard ratio (HR, high air pollution and high PRS vs low air pollution and low PRS): 1.978 [1.624, 2.411] | sex, age, Townsend index, moderate physical and household income | — |
| PPM017414 | PGS003459 (PRS_CO) |
PSS010186| European Ancestry| 3,212 individuals |
PGP000451 | Al-Janabi A et al. J Invest Dermatol (2023) |
Reported Trait: Paradoxical eczema in biologic-treated psoriasis | OR: 1.83 [1.17, 2.84] | AUROC: 0.585 | — | PCs 1-2 | — |
| PPM017412 | PGS003486 (PRS_AE) |
PSS010186| European Ancestry| 3,212 individuals |
PGP000451 | Al-Janabi A et al. J Invest Dermatol (2023) |
Reported Trait: Paradoxical eczema in biologic-treated psoriasis | OR: 1.89 [1.08, 3.3] | AUROC: 0.567 | — | PCs 1-2 | — |
| PPM020707 | PGS004587 (PRS23_AD) |
PSS011376| European Ancestry| 337,910 individuals |
PGP000566 | Gu X et al. Ecotoxicol Environ Saf (2023) |
Reported Trait: Incident atopic dermatitis | — | — | Hazard ratio (HR, high vs low PRS): 1.153 [1.037, 1.282] | sex, age, Townsend index, moderate physical and household income | — |
| PPM020708 | PGS004587 (PRS23_AD) |
PSS011376| European Ancestry| 337,910 individuals |
PGP000566 | Gu X et al. Ecotoxicol Environ Saf (2023) |
Reported Trait: Incident atopic dermatitis with air pollution level | — | — | Hazard ratio (HR, high air pollution and high PRS vs low air pollution and low PRS): 1.523 [1.259, 1.84] | sex, age, Townsend index, moderate physical and household income | — |
| PPM021335 | PGS004903 (PRS_ALL) |
PSS011691| European Ancestry| 3,212 individuals |
PGP000633 | Al-Janabi A et al. J Allergy Clin Immunol (2023) |
Reported Trait: Paradoxical eczema in individuals with psoriasis | — | — | Coefficient: 4.77 [0.58, 8.96] p: 0.026 |
— | — |
|
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 |
|---|---|---|---|---|---|---|---|---|
| PSS011691 | — | — | [
|
— | European | — | BSTOP | — |
| PSS007661 | For the CHILD Cohort Study, atopic dermatitis (AD) was from physician diagnosis at the one year follow-up. AD severity was defined as mild if there is a single site or no more than 2 sites, minor symptoms (little itching/rubbing), minor crusting and papules, not excoriated or oozing, not needing frequent medical attention; was defined as moderate if symptoms are neither mild nor severe or; was defined as severe if there are multiple sites, with extensive crusting or papules or excoriations or oozing or lichenification, sleep loss, needing frequent medical attention, and is a major concern to parents. In the SLSJ Cohort, atopic dermatitis was self-reported and considered as positive if past or present occurrence was reported. For children, cross validation was done using questionnaires filled by their parents. Moreover, validation in medical records of these self-reported phenotypes were done for a subset of the SLSJ Cohort (n = 217), giving 89% concordance. | — | [ ,
42.0 % Male samples |
Mean = 9.0 years Range = [0.0, 87.0] years |
European, South East Asian, East Asian, South Asian, African American or Afro-Caribbean, Native American, Greater Middle Eastern (Middle Eastern, North African or Persian), Hispanic or Latin American, Not reported | — | CHILD, SLSJ | Also used to evaluate the PRS_atopicDermatitis for other diseases of the atopic march: food allergy, allergic asthma and rhinitis. Only unrelated individuals were selected for analyses. |
| PSS011376 | — | Median = 12.0 years | 337,910 individuals, 45.6 % Male samples |
Mean = 57.1 years Sd = 8.0 years |
European | — | UKB | — |
| PSS010186 | Plaque psoriasis patients with at least one exposure to biologic therapy. Cases developed one or more paradoxical eczema adverse events during treatment with one of the following biologics: TNF-alpha inhibitors (adalimumab; etanercept; certolizumab; infliximab), IL-17 inhibitors (brodalumab; secukinumab; ixekizumab), IL-12/23 inhibitors (ustekinumab) and IL-23p19 inhibitors (guselkumab; risankizumab; tildrakizumab). Controls has no recorded eczema events during biologic therapy. Participants may have been exposed to more than one biologic. | — | [
|
— | European | — | BSTOP | — |
| PSS009939 | — | — | 39,444 individuals | — | European (Finnish) |
— | FinnGen | — |