Genome-wide association study of preserved ratio impaired spirometry (PRISm)
Daniel H Higbee1,2, Alvin Lirio3, Fergus Hamilton1
1MRC Integrative Epidemiology Unit (IEU), University of Bristol, Bristol, UK.
This genome-wide association study identified novel genetic signals for preserved ratio impaired spirometry (PRISm). These genetic factors are linked to other lung diseases and type 2 diabetes, offering insights into PRISm pathogenesis.
Area of Science:
- Genetics
- Pulmonology
- Epidemiology
Background:
- Preserved ratio impaired spirometry (PRISm) is characterized by reduced FEV1 and a normal FEV1/FVC ratio.
- PRISm is linked to respiratory symptoms and various comorbidities.
- Understanding the genetic basis of PRISm is crucial for elucidating its pathogenesis.
Conclusions:
- This study presents the first GWAS to identify SNPs associated with PRISm.
- Four novel genetic signals (rs7652391, rs9431040, rs62018863, rs185937162) were discovered, highlighting the value of diverse lung function phenotypes in GWAS.
- Genetic factors underlying PRISm are significantly correlated with risks for other lung diseases and extrapulmonary comorbidities.
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