Original Investigation | Ophthalmic Molecular Genetics

Challenges in Elucidating the Genetics of Diabetic Retinopathy

Jane Z. Kuo, MD, PhD1,2,3; Tien Y. Wong, MD, PhD4,5; Jerome I. Rotter, MD1,6
[+] Author Affiliations
1Medical Genetics Institute and Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, California
2Department of Ophthalmology, University of California San Diego, La Jolla
3Department of Ophthalmology, Chang Gung Memorial Hospital and College of Medicine, Chang Gung University, Chang Gung, Taiwan
4Singapore Eye Research Institute, Singapore National Eye Centre, Singapore
5Department of Ophthalmology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore
6Institute for Translational Genomics and Population Sciences, Los Angeles Bio Medical Research Institute, Harbor–UCLA Medical Center, Torrance, California
JAMA Ophthalmol. 2014;132(1):96-107. doi:10.1001/jamaophthalmol.2013.5024.
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Importance  In the past decade, significant progress in genomic medicine and technologic developments has revolutionized our approach to common complex disorders in many areas of medicine, including ophthalmology. A disorder that still needs major genetic progress is diabetic retinopathy (DR), one of the leading causes of blindness in adults.

Objective  To perform a literature review, present the current findings, and highlight some key challenges in DR genetics.

Design, Setting, and Participants  We performed a thorough literature review of the genetic factors for DR, including heritability scores, twin studies, family studies, candidate gene studies, linkage studies, and genome-wide association studies (GWASs).

Main Outcome Measures  Environmental and genetic factors for DR.

Results  Although there is clear demonstration of a genetic contribution in the development and progression of DR, the identification of susceptibility loci through candidate gene approaches, linkage studies, and GWASs is still in its infancy. The greatest obstacles remain a lack of power because of small sample size of available studies and a lack of phenotype standardization.

Conclusions and Relevance  The field of DR genetics is still in its infancy and is a challenge because of the complexity of the disease. This review outlines some strategies and lessons for future investigation to improve our understanding of this complex genetic disorder.

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Heritability Estimates for Diabetic Retinopathy

DCCT indicates Diabetes Control and Complications Trial; DR, diabetic retinopathy; FIND-Eye Study, Family Investigation of Nephropathy and Diabetes–Eye Study; PDR, proliferative diabetic retinopathy.

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