PGS Publication: PGP000253

Publication Information (EuropePMC)
Title Polygenic risk score for atopic dermatitis in the Canadian population.
PubMed ID 32439431(Europe PMC)
doi 10.1016/j.jaci.2020.04.057
Publication Date May 19, 2020
Journal J Allergy Clin Immunol
Author(s) Simard M, Madore AM, Girard S, Waserman S, Duan Q, Subbarao P, Sears MR, Moraes TJ, Becker AB, Turvey SE, Mandhane PJ, Morin C, Bégin P, Laprise C.
Released in PGS Catalog: Nov. 25, 2021

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
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Additional Diverse Ancestries
Not Reported

PGS Developed By This Publication

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.