Meta-analysis of exome array data identifies six novel genetic loci for lung function
Victoria E Jackson1, Jeanne C Latourelle2, Louise V Wain1,3
1Department of Health Sciences, University of Leicester, Leicester, UK.
Wellcome Open Research
|September 4, 2018
Summary
This study identified six novel genetic variants associated with lung function, including forced expiratory volume in one second and forced vital capacity. These findings may offer new insights into the genetic underpinnings of pulmonary diseases.
Area of Science:
- Genetics
- Pulmonology
- Bioinformatics
Background:
- Over 90 genomic regions are linked to lung function.
- Many of these regions are also implicated in chronic obstructive pulmonary disease (COPD).
Purpose of the Study:
- To identify novel genetic variants influencing lung function through meta-analyses.
- To explore the genetic architecture of lung function and its relation to pulmonary diseases.
Main Methods:
- Conducted meta-analyses of exome array data for lung function measures (FEV1, FVC, FEV1/FVC).
- Included large cohorts of European and African ancestry individuals in discovery and follow-up stages.
- Performed expression quantitative trait loci (eQTL) analyses to investigate gene expression regulation.
Main Results:
- Identified six significant single nucleotide polymorphisms (SNPs) associated with lung function.
- Discovered variants in or near genes including RPAP1, SEC24C, CASC17, UQCC1, LY86, and FGF10.
- eQTL analyses suggested gene regulation by identified signals, implicating TYRO3 and PLAU.
Conclusions:
- The identified genetic loci offer new targets for understanding lung function determinants.
- Further research into these regions may elucidate mechanisms underlying pulmonary diseases.
- These findings contribute to the genetic understanding of respiratory health.
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