B4664 - Search of genetic variants related with lung function a GWAS meta-analysis - 26/07/2024
B number:
B4664
Principal applicant name:
Marisa Canadas Garre | University of Bristol (UK)
Co-applicants:
Professor Nicholas Timpson, Dr Laura Corbin
Title of project:
Search of genetic variants related with lung function: a GWAS meta-analysis
Proposal summary:
Lung-function impairment underlies chronic obstructive pulmonary disease (COPD) and predicts mortality. Recently, over a thousand variants in over 500 genes were associated with lung function. Those variants were involved in different cell functions, providing information that brings us closer to understanding the mechanisms underlying lung function and COPD.
In this study, we will investigate a more comprehensive number of variants in genes, using the TOPMed reference panel, given its diverse sample population from both Europeans and non-Europeans, with a total of 97,256 high-coverage genomes, to help identifying variants responsible for lung function impairment.
Impact of research:
Greater understanding of the aetiology of COPD and especially lung function. This study will help identify novel genetic variants involved in lung function and may reveal not only causative markers but also potential targets for therapy and drug development.
Date proposal received:
Thursday, 25 July, 2024
Date proposal approved:
Friday, 26 July, 2024
Keywords:
Genetic epidemiology (including association studies and mendelian randomisation), • Lung Function
• Chronic Obstructive Pulmonary Disease (COPD)
, GWAS, Microarrays, Statistical methods, Biological samples -e.g. blood, cell lines, saliva, etc., Biomarkers - e.g. cotinine, fatty acids, haemoglobin, etc., Genetic epidemiology, Genetics, Genomics, Genome wide association study, Methods - e.g. cross cohort analysis, data mining, mendelian randomisation, etc., Statistical methods, Whole genome sequencing