Trait: atopic eczema

Experimental Factor Ontology (EFO) Information
Identifier EFO_0000274
Description A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema. [MESH: D003876]
Trait category
Immune system disorder
Synonyms 28 synonyms
  • Atopic Dermatitides
  • Atopic Dermatitis
  • Atopic Neurodermatitides
  • Atopic Neurodermatitis
  • Atopic dermatitis
  • Atopic dermatitis and related conditions (disorder)
  • Atopic neurodermatitis
  • Besnier's prurigo
  • Dermatitides, Atopic
  • Dermatitis, Atopic
  • Disseminated Neurodermatitides
  • Disseminated Neurodermatitis
  • Eczema, Atopic
  • Eczema, Infantile
  • Infantile Eczema
  • Neurodermatitides, Atopic
  • Neurodermatitides, Disseminated
  • Neurodermatitis, Atopic
  • Neurodermatitis, Disseminated
  • OTHER ATOPIC DERMATITIS
  • Other atopic dermatitis and related conditions
  • allergic
  • allergic dermatitis
  • allergic form of dermatitis
  • atopic dermatitis and related conditions
  • atopic eczema
  • eczema
  • eczematous dermatitis
Mapped terms 17 mapped terms
  • DOID:3310
  • ICD10:L20
  • ICD10:L20.81
  • ICD10:L20.9
  • ICD9:691
  • ICD9:691.8
  • MONDO:0004980
  • MeSH:D003876
  • MedDRA:10003641
  • NCIT:C3001
  • OMIM:147050
  • OMIM:603165
  • OMIM:605803
  • OMIMPS:603165
  • SNOMEDCT:200775004
  • SNOMEDCT:24079001
  • SNOMEDCT:90823000

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
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Multi-ancestry (excluding European)
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Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution 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

Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

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 : 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

Evaluated Samples

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
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.
[
  • 61 cases
  • , 615 controls
]
,
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.