Trait: asthma

Experimental Factor Ontology (EFO) Information
Identifier EFO_0000270
Description A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety. [EFO: 0000270]
Trait category
Other disease
Synonyms 38 synonyms
  • ASTHMA NOS W (AC) EXAC
  • Airway hyperreactivity
  • Asthma (disorder)
  • Asthma NOS
  • Asthma NOS (disorder)
  • Asthma unspecified
  • Asthma unspecified (disorder)
  • Asthma, Bronchial
  • Asthma, unspecified
  • Asthma, unspecified type, with acute exacerbation
  • Asthma, unspecified type, without mention of status asthmaticus
  • Asthmas
  • Asthmatic
  • BHR - Bronchial hyperreactivity
  • Bronchial Hyperreactivities
  • Bronchial asthma
  • Bronchial hyperreactivity
  • Bronchial hyperresponsiveness
  • Bronchial hypersensitivity
  • DUST PNEUMONOPATHY NEC
  • Exercise induced asthma
  • Exercise-induced asthma
  • Exercise-induced asthma (disorder)
  • Hyperreactive airway disease
  • Hyperreactive airways disease
  • Hyperreactivities, Bronchial
  • Hyperreactivity, Bronchial
  • Other forms of asthma
  • Pneumonopathy due to inhalation of other dust
  • Pneumopathy due to inhalation of other dust
  • Pneumopathy due to inhalation of other dust (disorder)
  • Pneumopathy due to inhalation of other dust NOS
  • Pneumopathy due to inhalation of other dust NOS (disorder)
  • asthma
  • bronchial hyperreactivity
  • chronic obstructive asthma
  • chronic obstructive asthma with acute exacerbation
  • chronic obstructive asthma with status asthmaticus
Mapped term(s) 24 mapped terms
  • COHD:317009
  • DOID:2841
  • GARD:0010246
  • HP:0002099
  • ICD10:J45
  • ICD10:J45.90
  • ICD10:J45.909
  • ICD9:493
  • ICD9:493.81
  • ICD9:493.9
  • KEGG:05310
  • MESH:D001249
  • MONDO:0004979
  • MeSH:D001249
  • NCIT:C28397
  • NCIt:C28397
  • OMIM:600807
  • OMIM:607277
  • OMIM:608584
  • OMIM:611064
  • OMIM:611960
  • SCTID:31387002
  • SNOMEDCT:195967001
  • UMLS:C0004096

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:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
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 PGS Scoring File (FTP Link)
PGS000037
(PGS_AST)
PGP000025 |
Belsky DW et al. Lancet Respir Med (2013)
Asthma asthma 15
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000037/ScoringFiles/PGS000037.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
PPM000082 PGS000037
(PGS_AST)
PSS000055|
European Ancestry|
880 individuals
PGP000025 |
Belsky DW et al. Lancet Respir Med (2013)
Reported Trait: Asthma onset, up to age 38 years HR: 1.12 [1.01, 1.26] sex
PPM000083 PGS000037
(PGS_AST)
PSS000055|
European Ancestry|
880 individuals
PGP000025 |
Belsky DW et al. Lancet Respir Med (2013)
Reported Trait: Life-course-persistent asthma RR: 1.36 [1.14, 1.63] sex
PPM000084 PGS000037
(PGS_AST)
PSS000056|
European Ancestry|
187 individuals
PGP000025 |
Belsky DW et al. Lancet Respir Med (2013)
Reported Trait: Asthma onset HR: 1.17 [1.01, 1.34] AUROC: 0.61 [0.53, 0.7] sex
PPM000085 PGS000037
(PGS_AST)
PSS000056|
European Ancestry|
187 individuals
PGP000025 |
Belsky DW et al. Lancet Respir Med (2013)
Reported Trait: Life-course-persistent asthma RR: 1.2 [1.05, 1.38] sex
PPM000086 PGS000037
(PGS_AST)
PSS000055|
European Ancestry|
880 individuals
PGP000025 |
Belsky DW et al. Lancet Respir Med (2013)
Reported Trait: Atopy (skin test for common allergen 2mm > control) RR: 1.07 [1.01, 1.14] sex
PPM000087 PGS000037
(PGS_AST)
PSS000055|
European Ancestry|
880 individuals
PGP000025 |
Belsky DW et al. Lancet Respir Med (2013)
Reported Trait: Airway hyper-responsiveness to methacholine or albuterol RR: 1.16 [1.03, 1.32] sex
PPM000088 PGS000037
(PGS_AST)
PSS000055|
European Ancestry|
880 individuals
PGP000025 |
Belsky DW et al. Lancet Respir Med (2013)
Reported Trait: Incompletely reversible airflow obstruction (IRAO, post-bronchodilator FEV1:FVC more than 2SD below mean) RR: 1.28 [1.04, 1.57] sex
PPM000089 PGS000037
(PGS_AST)
PSS000055|
European Ancestry|
880 individuals
PGP000025 |
Belsky DW et al. Lancet Respir Med (2013)
Reported Trait: Admitted to hospital for asthma RR: 1.38 [1.07, 1.79] sex

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
PSS000055 Current asthma status was assessed at ages 9, 11, 13, 15, 18, 21, 26, 32, and 38 years from standardised interviews of study members (or their mothers if the participant was younger than 13 years) done by pulmonary specialists. Current asthma was defined as a diagnosis of asthma in addition to positive symptoms within the past 12 months, including asthma attack, recurrent wheeze (excluding study members reporting only one or two episodes lasting less than 1 h), or medical treatment for asthma. Age at asthma onset was defined as the earliest age at which wheezing symptoms or diagnosis by a physician were recorded. Median = 38.0 years
Range = [0.0, 38.0] years
[
  • 305 cases
  • , 575 controls
]
,
51.0 % Male samples
European DMHDS
PSS000056 Current asthma status was assessed at ages 9, 11, 13, 15, 18, 21, 26, 32, and 38 years from standardised interviews of study members (or their mothers if the participant was younger than 13 years) done by pulmonary specialists. Current asthma was defined as a diagnosis of asthma in addition to positive symptoms within the past 12 months, including asthma attack, recurrent wheeze (excluding study members reporting only one or two episodes lasting less than 1 h), or medical treatment for asthma. Age at asthma onset was defined as the earliest age at which wheezing symptoms or diagnosis by a physician were recorded. 187 individuals European DMHDS Subset of children from DMHDS with asthma onset in childhood (before age 13 years)