| Title: | Genetic Study of Regmatogenous Retinal Detachment |
| Lead Institution: | Royal Free London NHS Foundation Trust |
| Principal investigator: | Dr Danny Mitry |
Application 37502
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About
Rhegmatogenous retinal detachment (RRD) is the most common type of retinal detachment and is a frequent cause of sudden visual loss. We have established one of the largest clinical and DNA databases of individuals with RRD. We have recently performed a genome wide association study (GWAS) successfully identifying genetic risk to this condition. We aim to use UK Biobank genotypes of self-reported RRD individuals as well as those of age and sex matched controls to perform an independent GWAS allowing look-up of previous findings and genome-wide meta-analysis. The proposed research is part of the UK Biobank Eye and Vision consortium which long term goal is to improve prevention and treatment of major causes of vision loss. Given the current availability of genetic data for UK Biobank participants, we are requesting data only, thus optimising the resources made available by UK Biobank. We propose to compare the genetic make-up of the group of self-reported retinal detachment cases with a group of age and sex matched controls within UK Biobank. Gender imbalance, increase prevalence of high myopia, recorded eye surgery, indicated contraindication for lung function capacity measures, will help ascertain how close the self-reported cases are from clinically recruited cases. A combined analysis of UK Biobank and our previous results will be performed. We aim to analyse the subset of ~2000 participants with self-reported RRD and matched controls. With eye operations and measurements available on a large enough number of individuals with RRD, we aim to include these measures, specifically refractive error, as additional covariates in sub-analyses. For the meta-analysis to be optimised, we have arranged with Generation Scotland DataManager and GS Access Committee (email to Lorraine Gillions) that identifiers of Generation Scotland participants will be provided to UKBiobank to allow linkage and request a restricted dataset where individuals participating to both Biobanks have been removed.1 Publication
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 5241 | Insights into the genetic basis of retinal detachment | Thibaud S Boutin (+40) | 2019 | Human Molecular Genetics |
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