Genetic components in diabetic retinopathy.
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Date
2016-01
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Abstract
Diabetic retinopathy (DR) is a serious complication of diabetes, which is fast reaching epidemic proportions
worldwide. While tight glycemic control remains the standard of care for preventing the progression of
DR, better insights into DR etiology require understanding its genetic basis, which in turn may assist in
the design of novel treatments. During the last decade, genomic medicine is increasingly being applied to
common multifactorial diseases such as diabetes and age‑related macular degeneration. The contribution
of genetics to the initiation and progression of DR has been recognized for some time, but the involvement
of specific genes and genetic variants remains elusive. Several investigations are currently underway for
identifying DR susceptibility loci through linkage studies, candidate gene approaches, and genome‑wide
association studies. Advent of next generation sequencing and high throughput genomic technologies,
development of novel bioinformatics tools and collaborations among research teams should facilitate such
investigations. Here, we review the current state of genetic studies in DR and discuss reported findings
in the context of biochemical, cell biological and therapeutic advances. We propose the development
of a consortium in India for genetic studies with large cohorts of patients and controls from limited
geographical areas to stratify the impact of the environment. Uniform guidelines should be established for
clinical phenotyping and data collection. These studies would permit identification of genetic loci for DR
susceptibility in the Indian population and should be valuable for better diagnosis and prognosis, and for
clinical management of this blinding disease.
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Keywords
Diabetic complications, genetic association, multifactorial disease, retinal disorders, susceptibility variants
Citation
Mishra Bibhudatta, Swaroop Anand, Kandpal Raj P. Genetic components in diabetic retinopathy. Indian Journal of Ophthalmology. 2016 Jan; 64(1): 55-61.