| Title: | Genetic contribution to vision loss and disability: The UK Biobank Eye & Vision Consortium |
| Lead Institution: | King's College London |
| Principal investigator: | Professor Christopher Hammond |
Application 17615
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About
Almost two million people in the UK live with sight loss, which is associated with socioeconomic deprivation, and being part of any minority ethnic group. The major causes of visual impairment in the UK include aged-related macular degeneration, glaucoma, cataract, diabetes, and myopia; all are becoming more common. The research question is: can we identify genetic factors that a) control susceptibility to eye disease in the general population, b) interact with environmental and other genetic factors to alter eye disease risk, c) affect different eye conditions and other medical traits jointly, to better explain the heritability of eye disease? UK Biobank?s aim is ?improving the prevention, diagnosis and treatment of a wide range of serious and life-threatening illnesses ? including ....eye disorders?. Vision loss impairs independence and quality of life, and incurs high healthcare costs to society. We anticipate this research will improve our understanding of how and why visually-impairing disorders develop, which will enhance on-going research into new treatments. It will also allow more personalized treatments to be formulated, so that the most effective treatments can be administered to those individuals who will benefit most. The UK Biobank Eye & Vision Consortium (http://www.ukbiobankeyeconsortium.org.uk/) is a group of leading scientists and clinicians with an interest in vision and eye health. We will study the detailed genetic information of UK Biobank participants in order to discover why certain individuals are more likely than others to develop specific eye disorders, as well as to understand the extent to which genetic risk is shared across eye disorders. This research will be carried out using the stringent safeguards required by UK Biobank to ensure the anonymity of participants. The principal analyses will be on quantitative phenotypes measured in the 117,649 people who took part in the eye and vision component of UK Biobank, and had refraction, intraocular pressure and acuity measures, and 68,151 people who underwent simultaneous colour retinal photography, together with spectral domain optical coherence tomography (SD-OCT) in both eyes. For some phenotypes, based on self-report and validated by other data such as surgical codes (eg retinal detachment, age-related cataract), the whole cohort will be included.2 Publications
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 9563 | A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus | Alison J. Hardcastle (+61) | 2021 | Communications Biology |
| 7635 | Genome-wide association study of corneal biomechanical properties identifies over 200 loci providing insight into the genetic aetiology of ocular diseases | Mark J Simcoe (+5) | 2020 | Human Molecular Genetics |
Enabling scientific discoveries that improve human health