title: Candidate gene studies of diabetic retinopathy in human.
abstract: Diabetic retinopathy (DR) is a multifactorial disease with complex pathophysiology. It is the main cause of blindness among the people in productive age. The purpose of this literature review is to highlight recent achievements in the genetics of diabetic retinopathy with particular focus on candidate gene studies. We summarized most of the available published data about candidate genes for diabetic retinopathy with the goal to identify main genetic aspects. We conclude that genetic studies reported contradictory findings and no genetic variants meet criteria of a diagnostic marker, or significantly elucidate the root of DR development. Based on these findings it is important to continue with the research in the field of DR genetics, mainly due to the fact that currently new possibilities and approaches associated with utilization of next-generation sequencing are available.
authors.affiliation: Faculty of Medicine, Institute of Medical Biology, Genetics and Clinical Genetics, University Hospital Bratislava, Comenius University in Bratislava, Sasinkova 4, 81108, Bratislava, Slovakia.
authors.forename: Petra
authors.initials: P
authors.lastname: Priščáková
authors.affiliation: Medirex Group Academy n.o., Galvaniho 17/C, 82016, Bratislava, Slovakia.
authors.forename: Gabriel
authors.initials: G
authors.lastname: Minárik
authors.affiliation: Faculty of Medicine, Institute of Medical Biology, Genetics and Clinical Genetics, University Hospital Bratislava, Comenius University in Bratislava, Sasinkova 4, 81108, Bratislava, Slovakia. vanda.repiska@fmed.uniba.sk.
authors.forename: Vanda
authors.initials: V
authors.lastname: Repiská
mesh_terms: D000818:Animals; D003922:Diabetes Mellitus, Type 1 / Q000150:complications* / Q000235:genetics; D003924:Diabetes Mellitus, Type 2 / Q000150:complications* / Q000235:genetics / Q000378:metabolism; D003930:Diabetic Retinopathy / Q000235:genetics* / Q000378:metabolism; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D012084:Renin-Angiotensin System; D012307:Risk Factors
keywords: DNA variants; Diabetes mellitus; Diabetic retinopathy; Genetic studies; Sequencing