Principal Investigator: Associate Professor Stuart MacGregor
QIMR Berghofer Medical Research Institute
Statistical Genetics, 300 Herston Road, Herston, Brisbane 4029
AustraliaTags: 25331, cancer, comorbidity, Complex Traits, risk factors
1a: Previously we have used the GWAS approach to map genes for a range of complex diseases. We have shown that loci overlap between a wide variety of complex traits. We will extract information on the full range of traits measured by UK Biobank and combine this with GWAS data we have in hand for a wide range of complex traits (including various cancers, eye disease, psychiatric traits). We will use the combined data to map novel loci for each trait as well as to estimate the overlap between traits.
1b: Our work will provide insights into the relationship between a wide range of complex traits. In the future this may help us improve our understanding of the molecular aetiology of complex trait risk.
1c: We will extract information on a wide range of traits and diseases and use UK Biobank array data, together with our own data, to test if there is a significant genetic overlap between traits. We will conduct analysis attempting to identify the specific genes underpinning each trait.
1d: Full cohort.
Project extension: “I would like to request the addition of fields 21011, 21012, 21013, 21014, 21015, 21016 to my application 25331.
These are bulk phenotypes. We would derive quantitative phenotypes characterizing the optic nerve head and return these to UK Biobank. We have previous experience in handling such phenotypes (e.g. Genome-wide association identifies ATOH7 as a major gene determining human optic disc size, MacGregor et al, Hum Mol Genet. 19(13):2716-24, 2010).
Optic nerve assessment is important for many blinding diseases, with cup-to-disc ratio (CDR) assessments commonly used in both diagnosis and progression monitoring of glaucoma patients. Optic disc, cup, rim area and CDR measurements all show substantial variation between human populations and high heritability estimates within populations. We have previous experience in handling such phenotypes (e.g. Genome-wide association identifies ATOH7 as a major gene determining human optic disc size, MacGregor et al, Hum Mol Genet. 19(13):2716-24, 2010). Using an automated image analysis platform we would like to process the retinal images from the UK Biobank, and compare quantitative traits with other ocular parameters and diseases. We will return the derived quantitative phenotypes (cup area, disc area, cup to disc ratio) to UK Biobank.”