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 unspecified
  • Exercise-induced asthma
  • Exercise-induced asthma (disorder)
  • Asthma, Bronchial
  • Asthma, unspecified type, without mention of status asthmaticus
  • chronic obstructive asthma with acute exacerbation
  • Pneumopathy due to inhalation of other dust NOS (disorder)
  • Bronchial Hyperreactivities
  • BHR - Bronchial hyperreactivity
  • Asthmas
  • Pneumopathy due to inhalation of other dust
  • Hyperreactivity, Bronchial
  • bronchial hyperreactivity
  • Hyperreactive airways disease
  • Pneumopathy due to inhalation of other dust (disorder)
  • Asthma NOS (disorder)
  • Asthma, unspecified
  • Pneumopathy due to inhalation of other dust NOS
  • chronic obstructive asthma
  • Bronchial hyperreactivity
  • Airway hyperreactivity
  • asthma
  • Exercise induced asthma
  • Other forms of asthma
  • ASTHMA NOS W (AC) EXAC
  • Bronchial asthma
  • Asthmatic
  • Hyperreactivities, Bronchial
  • Asthma, unspecified type, with acute exacerbation
  • Asthma unspecified (disorder)
  • Asthma NOS
  • Bronchial hyperresponsiveness
  • Pneumonopathy due to inhalation of other dust
  • DUST PNEUMONOPATHY NEC
  • Bronchial hypersensitivity
  • chronic obstructive asthma with status asthmaticus
  • Hyperreactive airway disease
  • Asthma (disorder)
Mapped term(s) 24 mapped terms
  • HP:0002099
  • ICD10:J45.909
  • COHD:317009
  • SCTID:31387002
  • NCIT:C28397
  • UMLS:C0004096
  • ICD9:493.81
  • NCIt:C28397
  • MONDO:0004979
  • MESH:D001249
  • ICD10:J45
  • GARD:0010246
  • OMIM:611064
  • ICD9:493.9
  • OMIM:600807
  • DOID:2841
  • OMIM:611960
  • KEGG:05310
  • ICD10:J45.90
  • OMIM:607277
  • MSH:D001249
  • SNOMEDCT:195967001
  • ICD9:493
  • OMIM:608584

Associated Polygenic Score(s)

Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Mapped Trait(s) (Ontology) Number of Variants 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

PGS 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 ID)
Evaluated Score PGS Sample Set ID
(PSS ID)
Performance Source Trait PGS Effect Sizes
(per SD change)
PGS Classification Metrics Other Metrics Covariates Included in the Model PGS Performance: Other Relevant Information
PPM000082 PGS000037 (PGS_AST) PSS000055 PGP000025
Belsky DW et al. (2013)
Reported Trait: Asthma onset, up to age 38 years HR: 1.12[1.01, 1.26] sex
PPM000083 PGS000037 (PGS_AST) PSS000055 PGP000025
Belsky DW et al. (2013)
Reported Trait: Life-course-persistent asthma RR: 1.36[1.14, 1.63] sex
PPM000084 PGS000037 (PGS_AST) PSS000056 PGP000025
Belsky DW et al. (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 PGP000025
Belsky DW et al. (2013)
Reported Trait: Life-course-persistent asthma RR: 1.2[1.05, 1.38] sex
PPM000086 PGS000037 (PGS_AST) PSS000055 PGP000025
Belsky DW et al. (2013)
Reported Trait: Atopy (skin test for common allergen 2mm > control) RR: 1.07[1.01, 1.14] sex
PPM000087 PGS000037 (PGS_AST) PSS000055 PGP000025
Belsky DW et al. (2013)
Reported Trait: Airway hyper-responsiveness to methacholine or albuterol RR: 1.16[1.03, 1.32] sex
PPM000088 PGS000037 (PGS_AST) PSS000055 PGP000025
Belsky DW et al. (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 PGP000025
Belsky DW et al. (2013)
Reported Trait: Admitted to hospital for asthma RR: 1.38[1.07, 1.79] sex

Evaluated Samples

PGS Sample Set ID
(PSS ID)
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)