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