Principal Investigator: Professor Kari Stefansson
deCODE genetics ehf, Sturlugata 8, Reykjavik IS101, IcelandTags: 24299, Association, Bronchitis, COPD, Emphysema, rare, WGS
Lead Collaborators: 1) Professor Ian Hall
Collaborating Institutions and Addresses: 1) University of Nottingham, Therapeutics & Mol Medicine, D Floor South Block, Queen’s Medical Centre, Nottingham, NG7 2UH, United Kingdom
Funding body: deCODE genetics ehf
1a: deCODE’s ongoing genetic study includes 6,000 COPD cases and 300,000 controls. Many sequence variants reported to associate with COPD or lung function replicate in our dataset. We have many novel variants associating with COPD, requiring follow up in a large dataset like the UKBiLEVE cohort, in particular rare variants identified by whole genome sequencing of the Icelanders. Our aim is to use existing genotypes or where necessary to undertake further genotyping of samples from UKBiLEVE subjects to confirm associations found in the Icelandic population, thereby establishing novel, robust associations between sequence variants and COPD or lung function.
1b: Identifying novel variants in the genome that associate with COPD or lung function will contribute to increased understanding of the disease and may provide new targets for development of improved treatments for the disease.
1c: Existing genotypes for UKBiLEVE subjects will be analysed for selected variants to confirm novel associations with COPD or its subphenotypes, emphysema and chronic bronchitis, or quantitative lung function traits, already identified in the deCODE sample set. DNA from UKBiLEVE subjects will be genotyped for rare variants for which no genotypes exist in UK Biobank. To identify UKBiLEVE subjects with COPD, emphysema, chronic bronchitis or asthma, information on self-reported or HES diagnosis of those diseases would be needed.
1d: Genotype information for 48931 individuals from UKBiLEVE and DNA samples from a subset of 19017 individuals, defined as COPD cases or controls in the study, are requested. In addition, we request genotype information and DNA samples for with self reported, or registered diagnosis of, COPD, emphysema or chronic bronchitis for up to 7428 individuals, fewer if the selected groups overlap. In total, genotypes for 56359 and DNA for 26445 individuals are requested.
Last updated Aug 8, 2017