| Application: | 44316, A study of genes implicated in Leber congenital amaurosis (LCA) and the role of preconception genetic screening |
| Title: | Integration of genomics and transcriptomics predicts diabetic retinopathy susceptibility genes |
| Size: | 955442 B |
| Archived: | 13 Aug 2021 |
| Stability: | Complete |
| Personal: | No individual-level data |
Return 3747
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Notes
We determined differential gene expression in response to high glucose in lymphoblastoid cell lines derived from matched individuals with type 1 diabetes with and without retinopathy. Those genes exhibiting the largest difference in glucose response were assessed for association with diabetic retinopathy in a genome-wide association study meta-analysis. Expression quantitative trait loci (eQTLs) of the glucose response genes were tested for association with diabetic retinopathy. We detected an enrichment of the eQTLs from the glucose response genes among small association p-values and identified folliculin (FLCN) as a susceptibility gene for diabetic retinopathy. Expression of FLCN in response to glucose was greater in individuals with diabetic retinopathy. Independent cohorts of individuals with diabetes revealed an association of FLCN eQTLs with diabetic retinopathy. Mendelian randomization confirmed a direct positive effect of increased FLCN expression on retinopathy. Integrating genetic association with gene expression implicated FLCN as a disease gene for diabetic retinopathy.Application 44316
A study of genes implicated in Leber congenital amaurosis (LCA) and the role of preconception genetic screening
Children with LCA are born blind. Even though the disease is rare, it has significant long term healthcare implications. A number of different genes have been implicated in the pathogenesis of LCA. Alleles are different forms of the same gene located on the same place on the chromosome. Comparing the frequency of different alleles in the causation of LCA will give a fair idea as to the mutations responsible. This will help in better screening techniques that can be used in the population, to reduce the incidence and prevalence of the disease, thus resulting in reduced blindness in the overall population. Reduced cases of LCA will mean easing the dependency on the healthcare system resources, even if by very little. We expect the project to last less than 6months, since it will be done insilico, with a simulated computer program.
| Lead investigator: | Dr Michael Grassi |
| Lead institution: | University of Illinois at Chicago |
1 Publication
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 3748 | Integration of genomics and transcriptomics predicts diabetic retinopathy susceptibility genes | Skol AD et al. | 2020 | Elife |
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