PGS Catalog - PGS000799 / Asthma (Polygenic Score)

Polygenic Score (PGS) ID: PGS000799

Predicted Trait
Reported Trait	Asthma
Mapped Trait(s)	asthma (MONDO_0004979)

Released in PGS Catalog: June 11, 2021

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Score Details

Score Construction
PGS Name	GRSw_TAGC
Development Method
Name	Genome-wide significant variants
Parameters	P < 5e-8
Variants
Original Genome Build	GRCh37
Number of Variants	22
Effect Weight Type	NR

PGS Source
PGS Catalog Publication (PGP) ID	PGP000189
Citation (link to publication)	Dijk FN et al. J Allergy Clin Immunol (2019)

Ancestry Distribution
Source of Variant Associations (GWAS)	European: 87.4% East Asian: 6.1% African: 4.8% Hispanic or Latin American: 1.6% 169,861 individuals (100%)
PGS Evaluation	European: 100% 2 Sample Sets

Development Samples

Source of Variant Associations (GWAS)

Study Identifiers	Sample Numbers	Sample Ancestry	Cohort(s)
GWAS Catalog: GCST005212 Europe PMC: 29273806	8,204 individuals	African unspecified, African American or Afro-Caribbean	48 cohorts AAGC ,ALSPAC ,ARIC ,B58C ,BAMSE ,CAG ,CAPPS ,CARDIA ,CHS ,CHS_b ,COPSAC ,CSGA ,DAG ,DNBC ,ECRHS ,EGEA ,EPIC ,FHS ,FINRISK ,G.MAS ,GAS ,GINI ,GRAAD ,Generation_R ,HBCS ,Health2000 ,JHS ,KSMU ,LISAplus ,MAAS ,MAGICS ,MESA ,MRCA-UKC ,NFBC ,NTR ,PIAMA ,RAINE ,RS ,SAGE.AST ,SAPALDIA ,SAPPHIRE ,SARP ,SEVERE ,SLSJ ,TOMSK ,UFA ,YFS ,deCODE
GWAS Catalog: GCST005212 Europe PMC: 29273806	127,669 individuals	European	48 cohorts AAGC ,ALSPAC ,ARIC ,B58C ,BAMSE ,CAG ,CAPPS ,CARDIA ,CHS ,CHS_b ,COPSAC ,CSGA ,DAG ,DNBC ,ECRHS ,EGEA ,EPIC ,FHS ,FINRISK ,G.MAS ,GAS ,GINI ,GRAAD ,Generation_R ,HBCS ,Health2000 ,JHS ,KSMU ,LISAplus ,MAAS ,MAGICS ,MESA ,MRCA-UKC ,NFBC ,NTR ,PIAMA ,RAINE ,RS ,SAGE.AST ,SAPALDIA ,SAPPHIRE ,SARP ,SEVERE ,SLSJ ,TOMSK ,UFA ,YFS ,deCODE
GWAS Catalog: GCST005212 Europe PMC: 29273806	5,215 individuals	East Asian	48 cohorts AAGC ,ALSPAC ,ARIC ,B58C ,BAMSE ,CAG ,CAPPS ,CARDIA ,CHS ,CHS_b ,COPSAC ,CSGA ,DAG ,DNBC ,ECRHS ,EGEA ,EPIC ,FHS ,FINRISK ,G.MAS ,GAS ,GINI ,GRAAD ,Generation_R ,HBCS ,Health2000 ,JHS ,KSMU ,LISAplus ,MAAS ,MAGICS ,MESA ,MRCA-UKC ,NFBC ,NTR ,PIAMA ,RAINE ,RS ,SAGE.AST ,SAPALDIA ,SAPPHIRE ,SARP ,SEVERE ,SLSJ ,TOMSK ,UFA ,YFS ,deCODE
GWAS Catalog: GCST005212 Europe PMC: 29273806	1,398 individuals	Hispanic or Latin American	48 cohorts AAGC ,ALSPAC ,ARIC ,B58C ,BAMSE ,CAG ,CAPPS ,CARDIA ,CHS ,CHS_b ,COPSAC ,CSGA ,DAG ,DNBC ,ECRHS ,EGEA ,EPIC ,FHS ,FINRISK ,G.MAS ,GAS ,GINI ,GRAAD ,Generation_R ,HBCS ,Health2000 ,JHS ,KSMU ,LISAplus ,MAAS ,MAGICS ,MESA ,MRCA-UKC ,NFBC ,NTR ,PIAMA ,RAINE ,RS ,SAGE.AST ,SAPALDIA ,SAPPHIRE ,SARP ,SEVERE ,SLSJ ,TOMSK ,UFA ,YFS ,deCODE
GWAS Catalog: GCST005213 Europe PMC: 29273806	20,762 individuals	European	25 cohorts ALSPAC ,BAMSE ,CAPPS ,CHS_b ,COPSAC ,DNBC ,ECRHS ,EGEA ,G.MAS ,GAS ,GINI ,Generation_R ,KSMU ,LISAplus ,MAAS ,MAGICS ,MESA ,MRCA-UKC ,PIAMA ,RAINE ,SAGE ,SAPALDIA ,SLSJ ,TOMSK ,UFA
GWAS Catalog: GCST005213 Europe PMC: 29273806	5,215 individuals	East Asian	25 cohorts ALSPAC ,BAMSE ,CAPPS ,CHS_b ,COPSAC ,DNBC ,ECRHS ,EGEA ,G.MAS ,GAS ,GINI ,Generation_R ,KSMU ,LISAplus ,MAAS ,MAGICS ,MESA ,MRCA-UKC ,PIAMA ,RAINE ,SAGE ,SAPALDIA ,SLSJ ,TOMSK ,UFA
GWAS Catalog: GCST005213 Europe PMC: 29273806	1,398 individuals	Hispanic or Latin American	25 cohorts ALSPAC ,BAMSE ,CAPPS ,CHS_b ,COPSAC ,DNBC ,ECRHS ,EGEA ,G.MAS ,GAS ,GINI ,Generation_R ,KSMU ,LISAplus ,MAAS ,MAGICS ,MESA ,MRCA-UKC ,PIAMA ,RAINE ,SAGE ,SAPALDIA ,SLSJ ,TOMSK ,UFA

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
PPM002079	PSS001028\| European Ancestry\| 427 individuals	PGP000189 \| Dijk FN et al. J Allergy Clin Immunol (2019)	Reported Trait: Asthma ever, at age 8 years	OR: 1.52 [1.19, 1.96]	—	—	—	Only 19 of the 22 SNP GRSw_TAGC were utilised. 3 SNPs were not used due to unavailability of data.
PPM002077	PSS001029\| European Ancestry\| 1,858 individuals	PGP000189 \| Dijk FN et al. J Allergy Clin Immunol (2019)	Reported Trait: Asthma ever, at age 8 years	OR: 1.23 [1.1, 1.38]	—	—	—	—
PPM002078	PSS001029\| European Ancestry\| 1,858 individuals	PGP000189 \| Dijk FN et al. J Allergy Clin Immunol (2019)	Reported Trait: Asthma ever, at age 8 years	—	AUROC: 0.66	—	Familial risk score (factors: parental allergy, parental allergy to pets, parental inhaled medication, low parental education) , environmental risk score (factors: pets at home during pregnancy, smoking mother during pregnancy, older siblings living at home), perinatal risk score (factors: sex, low birth weight < 2500 g)	—
PPM002080	PSS001028\| European Ancestry\| 427 individuals	PGP000189 \| Dijk FN et al. J Allergy Clin Immunol (2019)	Reported Trait: Asthma ever, at age 8 years	—	AUROC: 0.69	—	Familial risk score (factors: parental allergy, parental allergy to pets, parental inhaled medication, low parental education) , environmental risk score (factors: pets at home during pregnancy, smoking mother during pregnancy, older siblings living at home), perinatal risk score (factors: sex, low birth weight < 2500 g)	Only 19 of the 22 SNP GRSw_TAGC were utilised. 3 SNPs were not used due to unavailability of data.

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
PSS001028	Cases were children with asthma ever, at age 8 years. Cases were defined using an adjusted diagnosis of asthma ever at age 8 years based on (1) 1 or more attacks of wheeze in the last 12 months or (2) inhaled corticosteroids for respiratory or lung problems prescribed by a doctor in the last 12 months. A child who had at least 1 of these characteristics was categorized as having asthma.	—	427 individuals [ 215 cases , 212 controls ] , 56.2 % Male samples	—	European (Swedish)	—	BAMSE	Possible sample overlap of up to 100% between this dataset and the datasets used to source variants for GRSw_TAGC.
PSS001029	Cases were children with asthma ever, at age 8 years, in which asthma was defined by the following characteristics: 1 or more attacks of wheeze in the last 12 months, 1 or more events of shortness of breath (dyspnea) in the last 12 months, or inhaled corticosteroids for respiratory or lung problems prescribed by a doctor in the last 12 months. A child who had 1 or more of these characteristics was categorized as having asthma.	—	1,858 individuals [ 792 cases , 1,066 controls ] , 51.1 % Male samples	—	European	—	PIAMA	Possible sample overlap of up to 19% between this dataset and the datasets used to source variants for GRSw_TAGC.