April 2011
Volume 52, Issue 14
ARVO Annual Meeting Abstract  |   April 2011
Candidate Gene Study for Diabetic Retinopathy in CARe
Author Affiliations & Notes
  • Lucia Sobrin
    Harvard Med Mass Eye & Ear Infirmary, Boston, Massachusetts
  • Todd Green
    Broad Institute, Cambridge, Massachusetts
  • Xueling Sim
    National University of Singapore, Singapore, Singapore
  • Tay W. Ting
    Singapore Eye Research Institute, Singapore, Singapore
  • Richard A. Jensen
    Univ of Washington, Seattle, Washington
  • Barbara E. Klein
    Univ. of Wisconsin, Madison, Wisconsin
  • Mary Frances Cotch
    National Eye Institute, Bethesda, Maryland
  • Ronald Klein
    Univ. of Wisconsin, Madison, Wisconsin
  • Mark J. Daly
    Broad Institute, Cambridge, Massachusetts
  • Tien Y. Wong
    Singapore Eye Research Institute, Singapore, Singapore
    Centre for Eye Research Australia, Melbourne, Australia
  • Footnotes
    Commercial Relationships  Lucia Sobrin, None; Todd Green, None; Xueling Sim, None; Tay W. Ting, None; Richard A. Jensen, None; Barbara E. Klein, None; Mary Frances Cotch, None; Ronald Klein, None; Mark J. Daly, None; Tien Y. Wong, None
  • Footnotes
    Support  NIH Grants N01-HC-65226 and K12-EY16335, Research to Prevent Blindness Career Development Award, Massachusetts Lions Eye Research Fund
Investigative Ophthalmology & Visual Science April 2011, Vol.52, 2097. doi:
  • Views
  • Share
  • Tools
    • Alerts
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      Lucia Sobrin, Todd Green, Xueling Sim, Tay W. Ting, Richard A. Jensen, Barbara E. Klein, Mary Frances Cotch, Ronald Klein, Mark J. Daly, Tien Y. Wong; Candidate Gene Study for Diabetic Retinopathy in CARe. Invest. Ophthalmol. Vis. Sci. 2011;52(14):2097.

      Download citation file:

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

  • Supplements

Purpose: : To investigate whether variants in genes linked to diabetes, diabetic nephropathy, and cardiovascular disease are associated with diabetic retinopathy (DR) in a consortium of population-based cohorts.

Methods: : In the Candidate Gene Association Resource (CARe) study, 1746 European Americans with type 2 diabetes (T2D) had fundus photographs graded for DR by the Early Treatment of Diabetic Retinopathy Study (ETDRS) criteria and were genotyped for 49,320 single nucleotide polymorphisms (SNPs) from approximately 2,000 diabetes and cardiovascular-related candidate genes. Two definitions of DR cases were investigated: any DR (ETDRS grade ≥ 14) and moderate DR (ETDRS grade ≥ 30). For all analyses, controls were defined as having no DR (ETDRS grade < 14). Independent chi-square analysis in each cohort were combined by Cochran-Mantel-Haenszel pooling of the odds ratios (ORs) and corrected for multiple hypothesis testing using Bonferroni and permutation methods. For all statistically significant associations, logistic regression was performed adjusting for age, duration of diabetes, fasting glucose, total cholesterol, systolic and diastolic blood pressure. All statistical analyses were performed using PLINK.

Results: : Among 39 genes that have previously been associated with DR, diabetic nephropathy or T2D, three SNPs in the P selectin gene (SELP) were associated with any DR after correction for multiple testing including Bonferroni and permutation testing. The strongest association was to rs6128 (OR=0.55, p= 0.00636 and p=0.0003, respectively). All three SNPs remained significantly associated after adjusting for other known risk factors for DR. In addition, a variant on chromosome 4, rs6856425, was associated with any DR (OR=2.98, p=1.87 X 10-6 ) and moderate DR (OR=4.15, p=4.80 X 10-8). Only the association with moderate DR remained significant after correction by Bonferroni and permutation testing (p=0.00116 and 0.0087, respectively) and logistic regression (OR=4.87, p=0.002).

Conclusions: : Genetic variants in SELP and on chromosome 4 are associated with DR in CARe.

Keywords: diabetic retinopathy • genetics 

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.