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Published in: Current Diabetes Reports 9/2019

01-09-2019 | Diabetic Retinopathy | Microvascular Complications—Retinopathy (DL Chao and G Yiu, Section Editors)

Genetics of Diabetic Retinopathy

Authors: Jonathan Han, Leonardo Lando, Dorota Skowronska-Krawczyk, Daniel L. Chao

Published in: Current Diabetes Reports | Issue 9/2019

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Abstract

Purpose of Review

The goal of this paper is to review the latest findings in understanding the genetics of diabetic retinopathy. We highlight recent literature using a variety of molecular genetic techniques to identify variants which contribute to genetic susceptibility for diabetic retinopathy.

Recent Findings

New genome-wide association study (GWAS) and whole-exome sequencing approaches have been utilized to identify both common and rare variants associated with diabetic retinopathy. While variants have been identified in isolated studies, no variants have been replicated across multiple studies.

Summary

The identification of genetic factors associated with diabetic retinopathy remains elusive. This is due to the multifactorial nature of the disease, small sample sizes for GWAS, and difficulty in controlling covariates of the disease. Larger populations as well as utilization of new sequencing and data analysis techniques may lead to new insights into genetic factors associated with diabetic retinopathy in the future.
Literature
6.
go back to reference Diabetes mellitus in twins: a cooperative study in Japan. Committee on Diabetic Twins, Japan Diabetes Society. Diabetes Res Clin Pract. 1988;5(4):271–80. Diabetes mellitus in twins: a cooperative study in Japan. Committee on Diabetic Twins, Japan Diabetes Society. Diabetes Res Clin Pract. 1988;5(4):271–80.
7.
go back to reference Clustering of long-term complications in families with diabetes in the diabetes control and complications trial. The Diabetes Control and Complications Trial Research Group. Diabetes. 1997;46(11):1829–39. Clustering of long-term complications in families with diabetes in the diabetes control and complications trial. The Diabetes Control and Complications Trial Research Group. Diabetes. 1997;46(11):1829–39.
13.
go back to reference Imperatore G, Hanson RL, Pettitt DJ, Kobes S, Bennett PH, Knowler WC. Sib-pair linkage analysis for susceptibility genes for microvascular complications among Pima Indians with type 2 diabetes. Pima Diabetes Genes Group. Diabetes. 1998;47(5):821–830.CrossRef Imperatore G, Hanson RL, Pettitt DJ, Kobes S, Bennett PH, Knowler WC. Sib-pair linkage analysis for susceptibility genes for microvascular complications among Pima Indians with type 2 diabetes. Pima Diabetes Genes Group. Diabetes. 1998;47(5):821–830.CrossRef
17.
go back to reference Kwon JM, Goate AM. The candidate gene approach. Alcohol Res Health. 2000;24(3):164–8.PubMed Kwon JM, Goate AM. The candidate gene approach. Alcohol Res Health. 2000;24(3):164–8.PubMed
32.
go back to reference Grewal AS, Bhardwaj S, Pandita D, Lather V, Sekhon BS. Updates on aldose reductase inhibitors for management of diabetic complications and non-diabetic diseases. Mini Rev Med Chem. 2016;16(2):120–62.CrossRef Grewal AS, Bhardwaj S, Pandita D, Lather V, Sekhon BS. Updates on aldose reductase inhibitors for management of diabetic complications and non-diabetic diseases. Mini Rev Med Chem. 2016;16(2):120–62.CrossRef
33.
40.
42.
go back to reference •• Pollack S, Igo RP Jr, Jensen RA, Christiansen M, Li X, Cheng CY, et al. Multiethnic genome-wide association study of diabetic retinopathy using liability threshold modeling of duration of diabetes and glycemic control. Diabetes. 2019;68(2):441–56. https://doi.org/10.2337/db18-0567. The largest and well-designed GWAS performed on diabetic retinopathy. CrossRefPubMed •• Pollack S, Igo RP Jr, Jensen RA, Christiansen M, Li X, Cheng CY, et al. Multiethnic genome-wide association study of diabetic retinopathy using liability threshold modeling of duration of diabetes and glycemic control. Diabetes. 2019;68(2):441–56. https://​doi.​org/​10.​2337/​db18-0567. The largest and well-designed GWAS performed on diabetic retinopathy. CrossRefPubMed
43.
go back to reference • Shtir C, Aldahmesh MA, Al-Dahmash S, Abboud E, Alkuraya H, Abouammoh MA et al. Exome-based case-control association study using extreme phenotype design reveals novel candidates with protective effect in diabetic retinopathy. Hum Genet 2016;135(2):193–200. doi:10.1007/s00439-015-1624-8. Use of whole-exome approach using extreme phenotyping to identify rare variants associated with diabetic retinopathy. CrossRef • Shtir C, Aldahmesh MA, Al-Dahmash S, Abboud E, Alkuraya H, Abouammoh MA et al. Exome-based case-control association study using extreme phenotype design reveals novel candidates with protective effect in diabetic retinopathy. Hum Genet 2016;135(2):193–200. doi:10.1007/s00439-015-1624-8. Use of whole-exome approach using extreme phenotyping to identify rare variants associated with diabetic retinopathy. CrossRef
44.
go back to reference • Ung C, Sanchez AV, Shen L, Davoudi S, Ahmadi T, Navarro-Gomez D, et al. Whole exome sequencing identification of novel candidate genes in patients with proliferative diabetic retinopathy. Vis Res. 2017;139:168–76. https://doi.org/10.1016/j.visres.2017.03.007. A whole-exome analysis using extreme phenotyping to identify rare variants associated with diabetic retinopathy. CrossRefPubMed • Ung C, Sanchez AV, Shen L, Davoudi S, Ahmadi T, Navarro-Gomez D, et al. Whole exome sequencing identification of novel candidate genes in patients with proliferative diabetic retinopathy. Vis Res. 2017;139:168–76. https://​doi.​org/​10.​1016/​j.​visres.​2017.​03.​007. A whole-exome analysis using extreme phenotyping to identify rare variants associated with diabetic retinopathy. CrossRefPubMed
48.
go back to reference El-Shazly SF, El-Bradey MH, Tameesh MK. Vascular endothelial growth factor gene polymorphism prevalence in patients with diabetic macular oedema and its correlation with anti-vascular endothelial growth factor treatment outcomes. Clin Exp Ophthalmol. 2014;42(4):369–78. https://doi.org/10.1111/ceo.12182.CrossRefPubMed El-Shazly SF, El-Bradey MH, Tameesh MK. Vascular endothelial growth factor gene polymorphism prevalence in patients with diabetic macular oedema and its correlation with anti-vascular endothelial growth factor treatment outcomes. Clin Exp Ophthalmol. 2014;42(4):369–78. https://​doi.​org/​10.​1111/​ceo.​12182.CrossRefPubMed
50.
go back to reference Awata T, Kurihara S, Takata N, Neda T, Iizuka H, Ohkubo T, Osaki M, Watanabe M, Nakashima Y, Inukai K, Inoue I, Kawasaki I, Mori K, Yoneya S, Katayama S Functional VEGF C-634G polymorphism is associated with development of diabetic macular edema and correlated with macular retinal thickness in type 2 diabetes. Biochem Biophys Res Commun 2005;333(3):679–685. doi:https://doi.org/10.1016/j.bbrc.2005.05.167.CrossRef Awata T, Kurihara S, Takata N, Neda T, Iizuka H, Ohkubo T, Osaki M, Watanabe M, Nakashima Y, Inukai K, Inoue I, Kawasaki I, Mori K, Yoneya S, Katayama S Functional VEGF C-634G polymorphism is associated with development of diabetic macular edema and correlated with macular retinal thickness in type 2 diabetes. Biochem Biophys Res Commun 2005;333(3):679–685. doi:https://​doi.​org/​10.​1016/​j.​bbrc.​2005.​05.​167.CrossRef
Metadata
Title
Genetics of Diabetic Retinopathy
Authors
Jonathan Han
Leonardo Lando
Dorota Skowronska-Krawczyk
Daniel L. Chao
Publication date
01-09-2019
Publisher
Springer US
Published in
Current Diabetes Reports / Issue 9/2019
Print ISSN: 1534-4827
Electronic ISSN: 1539-0829
DOI
https://doi.org/10.1007/s11892-019-1186-6

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