April 2014
Volume 55, Issue 13
ARVO Annual Meeting Abstract  |   April 2014
Mitochondrial genetic effects on proliferative diabetic retinopathy
Author Affiliations & Notes
  • Christopher Estopinal
    Vanderbilt Eye Institute, Nashville, TN
  • Isaac M Chocron
    Vanderbilt Eye Institute, Nashville, TN
  • Megan B Parks
    Vanderbilt Eye Institute, Nashville, TN
  • Emily A Wade
    Vanderbilt Eye Institute, Nashville, TN
  • L. Goodwin Burgess
    Vanderbilt Eye Institute, Nashville, TN
  • David C Samuels
    Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, TN
  • Milam A Brantley
    Vanderbilt Eye Institute, Nashville, TN
  • Footnotes
    Commercial Relationships Christopher Estopinal, None; Isaac Chocron, None; Megan Parks, None; Emily Wade, None; L. Goodwin Burgess, None; David Samuels, None; Milam Brantley, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science April 2014, Vol.55, 2236. doi:
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    • Get Citation

      Christopher Estopinal, Isaac M Chocron, Megan B Parks, Emily A Wade, L. Goodwin Burgess, David C Samuels, Milam A Brantley; Mitochondrial genetic effects on proliferative diabetic retinopathy. Invest. Ophthalmol. Vis. Sci. 2014;55(13):2236.

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

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Purpose: To determine if specific mitochondrial haplogroups associate with non-proliferative diabetic retinopathy (NPDR) and proliferative diabetic retinopathy (PDR).

Methods: We obtained de-identified medical records for 54 NPDR patients and 21 PDR patients from BioVU, Vanderbilt University’s de-identified DNA databank. Information regarding diabetes type (1 or 2), duration of diabetes, and smoking status was recorded. This information was also examined for a replication cohort of 44 NPDR patients and 58 PDR patients recruited from Vanderbilt Eye Institute. HaploGrep software was used to determine mitochondrial haplogroups for patients in both cohorts. We tested for an association between mitochondrial haplogroups and presence of NPDR or PDR.

Results: Analysis of the BioVU cohort (n=75) showed the common European mitochondrial haplogroup H to be significantly overrepresented in the PDR group when compared to the NPDR group (p=0.038, OR=3.4 [95% CI 1.1-10.7]). Analysis replication in the clinical cohort (n=102) demonstrated an association between haplogroup H and PDR as well (p=0.0024, OR=3.8 [1.6-8.8]). When both cohorts were combined (n=177), a separate common haplogroup, U(k), was found to be significantly protective against PDR (p=0.031, OR = 0.43 [0.20-0.90]).

Conclusions: Presence of mitochondrial haplogroup H may predispose patients to develop PDR while mitochondrial haplogroup U(k) may be protective against the development of this severe stage. These results could further current understanding of DR and may help reveal the differences among DR patients that account for variable disease progression or treatment response.

Keywords: 499 diabetic retinopathy • 539 genetics • 600 mitochondria  

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