April 2011
Volume 52, Issue 14
Free
ARVO Annual Meeting Abstract  |   April 2011
SNP and Copy Number Variation in Severe Diabetic Retinopathy
Author Affiliations & Notes
  • Michael A. Grassi
    Surgery,
    University of Chicago, Chicago, Illinois
  • Anna Tikhomirov
    Genetic Medicine,
    University of Chicago, Chicago, Illinois
  • Sudha Ramalingam
    PSG Center for Molecular Medicine and Therapeutics, PSG Institute of Medical Sciences and Research, Coimbatore, India
  • Jennifer E. Below
    Genetic Medicine,
    University of Chicago, Chicago, Illinois
  • Nancy J. Cox
    Genetic Medicine,
    University of Chicago, Chicago, Illinois
  • Dan L. Nicolae
    Genetic Medicine,
    University of Chicago, Chicago, Illinois
  • Footnotes
    Commercial Relationships  Michael A. Grassi, None; Anna Tikhomirov, None; Sudha Ramalingam, None; Jennifer E. Below, None; Nancy J. Cox, None; Dan L. Nicolae, None
  • Footnotes
    Support  National Institutes of Health [K08 EY019089-02, R01 DK077489]; Diabetes Research and Training Center [P60 DK020595-32]
Investigative Ophthalmology & Visual Science April 2011, Vol.52, 2098. doi:
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    • Get Citation

      Michael A. Grassi, Anna Tikhomirov, Sudha Ramalingam, Jennifer E. Below, Nancy J. Cox, Dan L. Nicolae; SNP and Copy Number Variation in Severe Diabetic Retinopathy. Invest. Ophthalmol. Vis. Sci. 2011;52(14):2098.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose: : Diabetic retinopathy is a leading cause of blindness. The purpose of this study is to identify novel genetic loci associated with the sight threatening complications of diabetic retinopathy.

Methods: : We performed a meta-analysis of genome-wide association data for severe diabetic retinopathy as defined by diabetic macular edema or proliferative diabetic retinopathy in unrelated cases ascertained from two large, type I diabetic cohorts: the Genetics of Kidney in Diabetes (GoKinD) and the Epidemiology of Diabetes Intervention and Control Trial (EDIC) studies. Controls were all other diabetic subjects in the cohort. A combined total of 2871 subjects (973 cases, 1898 controls) were studied on 2,543,887 SNPs. We also performed an association analysis of 1390 copy number variations (CNV).

Results: : No associations were significant at a genome-wide level after correcting for multiple measures. The meta-analysis did identify several associations that can be pursued in future replication studies including an intergenic single nucleotide polymorphism (SNP), rs476141, on chromosome 1 (p-value 1.18x10-7). The most interesting signal from the CNV analysis was rs10521145 (p-value 3.43x10-6) in the intron of CCDC101, a histone acetyltransferase. This SNP tags the copy number region CNVR6685.1 on chromosome 16 at 28.5Mb, a gain/loss site.

Conclusions: : In summary, this study nominates several novel genetic loci associated with the sight threatening complications of diabetic retinopathy and anticipates future large-scale consortium based validation studies.

Keywords: retina • diabetes • genetics 
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