Genetics in Diabetic Retinopathy : Current Concepts and New Insights
Simó-Servat, Olga (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Hernández, Cristina (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Simó Canonge, Rafael (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Universitat Autònoma de Barcelona

Data:	2013
Resum:	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.
Ajuts:	Agència de Gestió d'Ajuts Universitaris i de Recerca 2009/SGR-739
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	Diabetic retinopathy ; Genetics ; Genome-wide association studies ; Linkage studies
Publicat a:	Current Genomics, Vol. 14 (august 2013) , p. 289-299, ISSN 1875-5488

DOI: 10.2174/13892029113149990008
PMID: 24403848

11 p, 181.8 KB

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