title: Genetics in diabetic retinopathy: current concepts and new insights.
abstract: There is emerging evidence which indicates the essential role of genetic factors in the development of diabetic retinopathy (DR). In this regard it should be highlighted that genetic factors account for 25-50% of the risk of developing DR. Therefore, the use of genetic analysis to identify those diabetic patients most prone to developing DR might be useful in designing a more individualized treatment. In this regard, there are three main research strategies: candidate gene studies, linkage studies and Genome-Wide Association Studies (GWAS). In the candidate gene approach, several genes encoding proteins closely related to DR development have been analyzed. The linkage studies analyze shared alleles among family members with DR under the assumption that these predispose to a more aggressive development of DR. Finally, Genome-Wide Association Studies (GWAS) are a new tool involving a massive evaluation of single nucleotide polymorphisms (SNP) in large samples. In this review the available information using these three methodologies is critically analyzed. A genetic approach in order to identify new candidates in the pathogenesis of DR would permit us to design more targeted therapeutic strategies in order to decrease this devastating complication of diabetes. Basic researchers, ophthalmologists, diabetologists and geneticists should work together in order to gain new insights into this issue.
authors.affiliation: Diabetes and Metabolism Research Unit. Vall d'Hebron Research Institute. Universitat Autònoma de Barcelona, Spain;
authors.forename: Olga
authors.initials: O
authors.lastname: Simó-Servat
authors.affiliation: Diabetes and Metabolism Research Unit. Vall d'Hebron Research Institute. Universitat Autònoma de Barcelona, Spain; ; Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), ISCIII, Spain.
authors.forename: Cristina
authors.initials: C
authors.lastname: Hernández
authors.affiliation: Diabetes and Metabolism Research Unit. Vall d'Hebron Research Institute. Universitat Autònoma de Barcelona, Spain; ; Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), ISCIII, Spain.
authors.forename: Rafael
authors.initials: R
authors.lastname: Simó
keywords: Diabetic retinopathy; Genetics; Genome-wide association studies; Linkage studies.