Diabetic retinopathy is among the most common complications in people with diabetes. In the end, it can lead to sight degeneration up to total blindness . Scientific studies show how genetic factors play a role in the development and progression of diabetic retinopathy, whose degree of heritability has been estimated to be 27% for proliferative diabetic retinopathy [2,3]
The RETINO panel analyzes 8 genetic polymorphisms (or SNPs) whose presence is associated with a greater probability of developing diabetic nephropathy. In this panel, for some genes we analyze more than one mutation. Genes with variants studied within the RETINO panel are listed hereafter:
- VEGF: gene that encodes the vascular endothelial growth factor (VEGF) essential for the development of new blood vessels.
- KDR (VEGFR-2): gene that encodes the VEGF receptor, the endothelial growth factor.
- NOS3: gene that encodes an enzyme that produces nitric oxide, which acts as a biological mediator in different processes of vascular tissues.
- ICAM-1: gene that encodes a protein that stabilizes cell-cell interactions, and facilitates endothelial leukocyte transmigration.
Recommended for anyone who wants to know genetic predisposition to develop diabetic retinopathy.
- Cheung N, Mitchell P, Wong TY. Diabetic retinopathy. Lancet 2010; 376:124- 36.
- Arar NH, Freedman BI, Adler SG, Iyengar SK, Chew EY, Davis MD, Satko SG, Bowden DW, Duggirala R, Elston RC, Guo X, Hanson RL, Igo RP, Ipp E, Kimmel PL, Knowler WC, Molineros J, Nelson RG, Pahl MV, Quade SRE, Rasooly RS, Rotter JI, Saad MF, Scavini M, Schelling JR, Sedor JR, Shah VO, Zager PG, Abboud HE, Diabet FIN. Heritability of the severity of diabetic retinopathy: The FIND-Eye study. Invest Ophthalmol Vis Sci 2008; 49:3839-45.
- Hietala K, Forsblom C, Summanen P, Groop PH, Grp FS. Heritability of proliferative diabetic retinopathy. Diabetes 2008; 57:2176-80.