Diaretinopathy database – A Gene database for diabetic retinopathy

Abstract

Diabetic retinopathy, is a microvascular complication of diabetes mellitus and is a major cause of adult blindness. Despite advances in diagnosis and treatment the pathogenesis of diabetic retinopathy is not well understood. Results from epidemiological studies of diabetic patients suggest that there are familial predispositions to diabetes and to diabetic retinopathy. Therefore the main purpose of this database is to help both scientists and doctors in studying the candidate genes responsible for causing diabetic retinopathy. For each candidate gene official symbol, chromosome map, number of exons, GT-AG introns, motif, polymorphic variation and 3D structure are given respectively. In addition to molecular class and function of these genes, this database also provides links to download the corresponding nucleotide and amino acid sequences in FASTA format which may be further used for computational approaches. Therefore this database will increase the understanding of the genetics underlying the development or progression of diabetic retinopathy and will have an impact on future diagnostic, prevention and intervention strategies. AvailabilityThe database is freely available at http: diaretinopathydatabase.com

Association between LEKR1‐CCNL1 and IGSF21‐KLHDC7A gene polymorphisms and diabetic retinopathy of type 2 diabetes mellitus in the Chinese Han population

“…Rs3007729 is located between the IGSF21 gene and the KLHDC7A gene. KLHDC7A mediates cell–cell adhesion and is a key molecule for promoting diabetic retinopathy . Immunoglobin superfamily member 21 (IGSF21) may be involved in the signaling cellular response to external stimuli, specifically triggering cytoskeletal organization and regulation of metabolic and catalytic activity.…”

Screening of candidate genes in fibroblasts derived from patients with Dupuytren’s contracture using bioinformatics analysis

“…C10orf10 is identified to be differentially expressed in Hutchinson-Gilford progeria syndrome fibroblasts [50]. KLHDC7A can mediates cell-cell adhesion and is a key molecule for promoting diabetic retinopathy [51] and diabetes is proved to be a predisposing factor which may contribute to the development of DC [52]. Thus, KLHDC7A may be involved in DC due to the association between DC and diabetes.…”

Untitled

“…Supportive evidence for a genetic role of retinopathy derives from twin, family and transracial studies demonstrating the importance of inherited factors in the aetiology of diabetes and its complications 3 -5 . Diabetic retinopathy is primarily classified into Background diabetic retinopathy; Non-Proliferative diabetic retinopathy (NPDR) and Proliferative diabetic retinopathy (PDR) 6 . Visual impairment in diabetic retinopathy also occurs due to diabetic macular edema (DME) which is defined as retinal thickening / hard exudates which are due to increased permeability of retinal vessels 7,8 .…”