Author: Taverna, Mariano J

Source: Expert Review of Ophthalmology, Volume 3, Number 2, April 2008 , pp. 165-175(11)

Publisher: Expert Reviews

Abstract:

Diabetic retinopathy (DR) is the leading cause of vision loss and blindness among adults in developed countries. Despite intensive antidiabetic treatment, the global prevalence of DR is growing due to an increasing incidence and prolonged survival of diabetic individuals. As a complex disease, DR is a consequence of multiple interactions between environmental and genetic factors. Racial differences in incidence, familial aggregation and candidate gene association studies suggest that genetic factors play a role in the etiology of DR. Despite approximately 30 years of research, the molecular genetics of DR is still in its infancy owing to the low quality of most research studies. To date, only a few genetic markers from one gene, AKR1B1 (aldose reductase) - the first enzyme involved in the polyol pathway of glucose metabolism that converts glucose into sorbitol - have been identified. Successful genetic epidemiology requires a high sample size, longitudinal designs, analysis of large haplotype blocks integrated by tag single nucleotide polymorphisms identified by means of human haplotype map (HapMap) data, genome-wide association studies using high density microarray-based single nucleotide polymorphism genotyping and pharmacogenomic approaches. An urgent move from old genetics to modern genomics is necessary to boost the ability to identify genes contributing to the development and progression of DR.

Keywords: diabetes; diabetic retinopathy; genetics; polymorphism

Document Type: Research article

DOI: http://dx.doi.org/10.1586/17469899.3.2.165

Affiliations: 1: Instituto de Estudios de la Inmunidad Humoral (IDEHU), National Research Council (CONICET), Facultad de Farmacia y Bioquímica de la Universidad de Buenos Aires, Argentina., Email: mariano.taverna@yahoo.com

Publication date: 2008-04-01

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