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Challenges in elucidating the genetics of diabetic retinopathy.

Publication ,  Journal Article
Kuo, JZ; Wong, TY; Rotter, JI
Published in: JAMA Ophthalmol
January 2014

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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Published In

JAMA Ophthalmol

DOI

EISSN

2168-6173

Publication Date

January 2014

Volume

132

Issue

1

Start / End Page

96 / 107

Location

United States

Related Subject Headings

  • Twin Studies as Topic
  • Transcriptome
  • Quantitative Trait, Heritable
  • Molecular Biology
  • Humans
  • Genome-Wide Association Study
  • Genetic Linkage
  • Diabetic Retinopathy
  • 3212 Ophthalmology and optometry
 

Citation

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Chicago
ICMJE
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Kuo, J. Z., Wong, T. Y., & Rotter, J. I. (2014). Challenges in elucidating the genetics of diabetic retinopathy. JAMA Ophthalmol, 132(1), 96–107. https://doi.org/10.1001/jamaophthalmol.2013.5024
Kuo, Jane Z., Tien Y. Wong, and Jerome I. Rotter. “Challenges in elucidating the genetics of diabetic retinopathy.JAMA Ophthalmol 132, no. 1 (January 2014): 96–107. https://doi.org/10.1001/jamaophthalmol.2013.5024.
Kuo JZ, Wong TY, Rotter JI. Challenges in elucidating the genetics of diabetic retinopathy. JAMA Ophthalmol. 2014 Jan;132(1):96–107.
Kuo, Jane Z., et al. “Challenges in elucidating the genetics of diabetic retinopathy.JAMA Ophthalmol, vol. 132, no. 1, Jan. 2014, pp. 96–107. Pubmed, doi:10.1001/jamaophthalmol.2013.5024.
Kuo JZ, Wong TY, Rotter JI. Challenges in elucidating the genetics of diabetic retinopathy. JAMA Ophthalmol. 2014 Jan;132(1):96–107.

Published In

JAMA Ophthalmol

DOI

EISSN

2168-6173

Publication Date

January 2014

Volume

132

Issue

1

Start / End Page

96 / 107

Location

United States

Related Subject Headings

  • Twin Studies as Topic
  • Transcriptome
  • Quantitative Trait, Heritable
  • Molecular Biology
  • Humans
  • Genome-Wide Association Study
  • Genetic Linkage
  • Diabetic Retinopathy
  • 3212 Ophthalmology and optometry