ARS | Publication request: Apolipoprotein E gene polymorphisms and retinal vascular signs: The Atherosclerosis Risk in Communities (ARIC) Study

Submitted to: Archives of Ophthalmology
Publication Type: Peer Reviewed Journal
Publication Acceptance Date: February 23, 2007
Publication Date: June 3, 2007
Citation: Liew, G., Shankar, A., Wang, J.J., Klein, R., Bray, M.S., Couper, D.J., Sharrett, A.R., Wong, T.Y. 2007. Apolipoprotein E gene polymorphisms and retinal vascular signs: The Atherosclerosis Risk in Communities (ARIC) Study. Archives of Ophthalmology. 125(6):813-818.

Interpretive Summary: Because genes are thought to be important in eye disease, the purpose of this study was to determine whether variation in the DNA sequence of a gene called apolipoprotein E (APOE) increases the development of eye disease. One form of this gene sequence, called epsilon 4, was shown to increase risk for eye disease in white and black individuals without diabetes compared to people with another form of the gene sequence, called epsilon 3. Understanding the genes and biologic processes that influence the development of eye disease may lead to the development of more effective treatments for this disease.

Technical Abstract: Our objective was to examine the association between apolipoprotein E (APOE) gene polymorphisms and retinal microvascular signs. We used a population-based, cross-sectional study. Participants from the Atherosclerosis Risk in Communities Study (n=10,036; aged 49-73 years) had retinal photographs taken in 1 randomly selected eye. Photographs were graded for presence of retinal microvascular signs using a standardized protocol; a computer-assisted method was used to measure retinal vessel diameter. DNA from blood samples was analyzed for common APOE alleles. After adjusting for age, sex, systolic blood pressure, total serum cholesterol, triglycerides, and other covariates, APOE epsilon 4 was associated with nondiabetic retinopathy in white (multivariate-adjusted odds ratio, 1.3; 95% confidence interval, 1.0-1.6) and black (multivariate-adjusted odds ratio, 1.4; 95% confidence interval, 1.0-2.1) individuals. Other retinal microvascular signs were not strongly associated with APOE polymorphisms. Neither retinal arteriolar nor venular diameter was associated with APOE polymorphisms in white or black individuals. Apolipoprotein E epsilon 4 was weakly associated with retinopathy in persons without diabetes. Other signs were less consistently associated with APOE polymorphisms.