Polygenic Score (PGS) ID: PGS001773

Predicted Trait
Reported Trait Moderate-to-severe atopic dermatitis
Mapped Trait(s) atopic eczema (EFO_0000274)
Released in PGS Catalog: Nov. 25, 2021
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Score Details

Score Construction
PGS Name PRS_atopicDermatitis
Development Method
Name Top 25 variants associated with moderate-to-severe atopic dermatitis within the Canadian cohorts GWAS
Parameters MAF > 0.05
Variants
Original Genome Build GRCh37
Number of Variants 25
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000253
Citation (link to publication) Simard M et al. J Allergy Clin Immunol (2020)
Ancestry Distribution
Source of Variant
Associations (GWAS)
Multi-ancestry (including European): 100%
  • European
  • Additional Asian Ancestries
  • East Asian
  • South Asian
  • African
  • Additional Diverse Ancestries
  • Greater Middle Eastern
  • Hispanic or Latin American
  • Not Reported
2,688 individuals (100%)
PGS Evaluation
Multi-ancestry (including European): 100%
  • European
  • Additional Asian Ancestries
  • East Asian
  • South Asian
  • African
  • Additional Diverse Ancestries
  • Greater Middle Eastern
  • Hispanic or Latin American
  • Not Reported
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
Europe PMC: 32439431
[
  • 222 cases
  • , 2,466 controls
]
,
44.0 % Male samples
 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

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) 		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 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 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 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 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.