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Mendelian randomization identifies FLCN expression as a mediator of diabetic retinopathy

ABSTRACT: Mendelian randomization identifies FLCN expression as a mediator of diabetic retinopathy

PROVIDER: PRJNA611510 | ENA |

REPOSITORIES: ENA

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Mendelian randomization identifies FLCN expression as a mediator of diabetic retinopathy

Project description:The goal of the study was to identify genes whose aberrant expression can contribute to diabetic retinopathy. We determined differential response in gene expression to high glucose in lymphoblastoid cell lines derived from matched type 1 diabetic individuals with and without retinopathy. Those genes exhibiting the largest difference in glucose response between diabetic subjects with and without retinopathy were assessed for association to diabetic retinopathy utilizing genotype data from a meta-genome-wide association study. All genetic variants associated with gene expression (expression QTLs; eQTLs) of the glucose response genes were tested for association with diabetic retinopathy. We detected an enrichment of the glucose response gene eQTLs among small association p-values for diabetic retinopathy. Among these, we identified FLCN as a susceptibility gene for diabetic retinopathy. Expression of FLCN in response to glucose is greater in individuals with diabetic retinopathy compared to diabetic individuals without retinopathy. Three large, independent cohorts of diabetic individuals revealed an enhanced association of FLCN eQTL to diabetic retinopathy. Mendelian randomization confirmed a direct positive effect of increased FLCN expression on retinopathy in diabetic individuals. Together, our studies integrating genetic association and gene expression implicate FLCN as a disease gene in diabetic retinopathy.

2020-03-10 | GSE146615 | GEO

Incipient diabetic retinopathy - Early regulation of genes

Project description:The development of diabetic retinopathy is well characterized on a histological level. Early vascular alterations involve the loss of pericytes. Earlier mechanisms leading to the phenotype of diabetic retinopathy, which involves the complete neurovascular unit, are not yet fully understood. The gene expression data presented here is derived from microarrays and gives further insights into early genetic regulation in incipient diabetic retinopathy.

2019-01-17 | GSE111465 | GEO

circRNA profiles of diabetic retinopathy

Project description:To compare the circRNA expression profile of diabetic retinopathy with that of diabetes mellitus and controls, peripheral blood mononuclear cell samples were obtained and extracted from healthy controls and diabetes mellitus patients (with or without diabetic retinopathy). CircRNA Capital Bio Technology Human CircRNA Array v2 was performed to detect circRNA expression profiles. To further check differentiate circRNA, qRT_PCR assay was performed to detect the level of 5 candidates.

2022-01-21 | GSE193974 | GEO

Gene expression data from FLCN-restored UOK257-2 renal cancer cells

Project description:UOK257 cell line was derived from a BHD patient. It harbors a germline mutation in FLCN (c.1285dupC) and LOH. UOK257-2 cells were generated from UOK257 cells by introducing wildtype FLCN using retrovirus. FLCN inactivation induces TFE3 transcriptional activity by increasing its nuclear localization. Thus expression microarray was used to identify the genes regulated by FLCN and TFE3. UOK257-2 cells expressing wildtype FLCN were transfected with 1) scrambled, 2) FLCN, 3) TFE3 and 4)FLCN/TFE3 siRNAs with Lipofectamine 2000 transfection reagent. Cells were harvested 3 days after transfection and RNAs were isolated using Trizol reagent and RNeasy Mini Kit. The genes induced by FLCN siRNA and reduced by TFE3 siRNA were chosen as a candidate genes regulated by FLCN and TFE3.

2010-10-11 | E-GEOD-23614 | biostudies-arrayexpress

Putative tear fluid biomarkers of diabetic retinopathy

Project description:Identification of tear fluid biomarkers may offer a non-invasive strategy for detecting diabetic patients with increased risk of developing diabetic retinopathy (DR) or increased disease progression, thus helping both improving diagnostic accuracy and understanding the pathophysiology of the disease. The goal of this study was to characterize the proteomic profile of human tear fluid and examine changes in proteins expression in different stages of diabetic retinopathy.

2022-05-31 | PXD033101 | Pride

Cellular and Molecular Linkage between Diabetic Nephropathy and Diabetic Retinopathy

Project description:Diabetic nephropathy and diabetic retinopathy are related. We used scRNA-seq and RNA-seq to analyze the cellular linkage between them.

2023-08-15 | GSE204880 | GEO

circRNA profiles of diabetic retinopathy

Project description:circRNA profiles of diabetic retinopathy

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Salivary biomarkers of diabetic retinopathy, part 1

Project description:To characterize human salivary proteome and determine changes in proteins expression in different stages of diabetic retinopathy.

2016-04-26 | PXD003723 | Pride

Salivary biomarkers of diabetic retinopathy, part 3

Project description:To characterize the human salivary proteome and determine changes in proteins expression in different stages of diabetic retinopathy.

2016-04-26 | PXD003725 | Pride

Influence of diabetic retinopathy on peripheral blood gene expression

Project description:To understand the association between systemic factors and the diabetic retinopathy, blood samples were collected in 50 healthy controls, 74 diabetic patients without diabetic retinopathy (DM group), and 69 diabetic retinopathy (DR Group). T1DM and T2DM in this study was based on the diagnostic criteria for diabetes proposed by the WHO in 1999. The diagnosis of DR was based on the international clinical classification of DR proposed at the 2002 International Ophthalmology Conference. We then performed gene expression profiling analysis using data obtained from RNA-seq of three patient groups.

2023-05-26 | GSE221521 | GEO

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