July 2019
Volume 60, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2019
Genetic Epidemiologic Analysis of Hypertensive Retinopathy (HTR) Reveals Unique Risk in a Native American Population
Author Affiliations & Notes
  • Patrice Marie Hicks
    Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, Utah, United States
  • Samuel Collazo-Melendez
    Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, Utah, United States
  • Albert T Vitale
    Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, Utah, United States
  • William Self
    Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, Utah, United States
  • M Elizabeth Hartnett
    Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, Utah, United States
  • Paul S Bernstein
    Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, Utah, United States
  • Denise J Morgan
    Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, Utah, United States
  • Michael Feehan
    Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, Utah, United States
    College of Pharmacy, University of Utah, Salt Lake City, Utah, United States
  • Akbar Shakoor
    Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, Utah, United States
  • Ivana K Kim
    Retina Service, Harvard Medical School, Boston, Massachusetts, United States
  • Leah A. Owen
    Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, Utah, United States
  • Margaret M. DeAngelis
    Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, Utah, United States
    College of Pharmacy, University of Utah, Salt Lake City, Utah, United States
  • Footnotes
    Commercial Relationships   Patrice Hicks, None; Samuel Collazo-Melendez, None; Albert Vitale, None; William Self, None; M Elizabeth Hartnett, None; Paul Bernstein, None; Denise Morgan, None; Michael Feehan, None; Akbar Shakoor, None; Ivana Kim, None; Leah Owen, None; Margaret DeAngelis, None
  • Footnotes
    Support  The ALSAM Foundation; Eunice Kennedy Shriver National Institute of Child Health & Human Development and the Office of Research on Women’s Healthy of the National Institutes of Healthy under Award Number K12HD085852; National Institutes of Health (EY014800), and an Unrestricted Grant from Research to Prevent Blindness, Inc., New York, NY, to the Department of Ophthalmology & Visual Sciences, University of Utah
Investigative Ophthalmology & Visual Science July 2019, Vol.60, 5225. doi:
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      Patrice Marie Hicks, Samuel Collazo-Melendez, Albert T Vitale, William Self, M Elizabeth Hartnett, Paul S Bernstein, Denise J Morgan, Michael Feehan, Akbar Shakoor, Ivana K Kim, Leah A. Owen, Margaret M. DeAngelis; Genetic Epidemiologic Analysis of Hypertensive Retinopathy (HTR) Reveals Unique Risk in a Native American Population. Invest. Ophthalmol. Vis. Sci. 2019;60(9):5225.

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

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Abstract

Purpose : Understanding disease risk is challenging in multifactorial conditions as it can differ by environment, ethnicity and race. The Confederated Tribes of the Goshute Reservation are one of the most isolated populations in the US. Thus this population faces significant barriers to health care and may have unique risk for disease. Retinal changes are a significant and reliable indicator for systemic disease. We therefore conducted a case-control study to identify correlations between genetic data and epidemiological risk factors for HTR in this tribe.

Methods : Adults living on the Goshute Reservation were eligible for enrollment. Peripheral blood samples and color fundus photos were obtained for all participants. In addition, a standardized questionnaire was administered that assessed factors including history of smoking, hypertension, hyperlipidemia, and obesity. Peripheral leukocyte DNA was analyzed for previously reported retinal disease associated SNPs. Total cholesterol, HDL, LDL, VLDL, triglycerides and HbA1c were also evaluated. All fundus photos were independently examined by at least 3 ophthalmologists. HTR was graded by the Keith-Wagener-Baker scale. All risk factors were initially tested for association with the observed HTR in univariate analysis. Only risk factors with an association at P<.05 were included in a multivariate model, using logistic regression in Stata v15.0.

Results : Out of 50 Goshutes and 14 Ranchers, 29 had HTR. We found an association between hypertriglyceridemia and HTR (OR=4.228; 95% CI =.998-17.912; p = .05) within the Goshute population. When considering the total study population, including both the Goshute and Rancher population, we found a borderline association between hypertension and HTR (OR =3.667; 95% CI =.951-14.141; p=.059). When observing the total study population with HTR, CFH Y402H was found to be protective in the Goshute population compared to the Ranchers (OR =.039; 95% CI =.002-.841; p=.038).

Conclusions : We identified hypertension as a modifiable risk factor in the total study population of both American Indians and Ranchers and hypertriglyceridemia as being unique to the American Indian population. CFH Y402H may be protective for HTR in the Goshutes. To the best of our knowledge, this is the first study of its kind to demonstrate an independently predictive relationship between hypertriglyceridemia and hypertensive retinopathy.

This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.

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