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. 2017 Feb 1;58(2):1346-1351.
doi: 10.1167/iovs.16-20616.

Mitochondrial Haplogroups Affect Severity But Not Prevalence of Diabetic Retinopathy

Jana A Bregman  1 , David J Herren  1 , Christopher B Estopinal  1 , Isaac M Chocron  1 , Paula A Harlow  1 , Cassandra Warden  1 , Milam A Brantley Jr  1 , David C Samuels  2
Affiliations

Mitochondrial Haplogroups Affect Severity But Not Prevalence of Diabetic Retinopathy

Jana A Bregman et al. Invest Ophthalmol Vis Sci. .

Abstract

Purpose: We previously reported European mitochondrial haplogroup H to be a risk factor for and haplogroup UK to be protective against proliferative diabetic retinopathy (PDR) among Caucasian patients with diabetic retinopathy (DR). The purpose of this study was to determine whether these haplogroups are also associated with the risk of having DR among Caucasian patients with diabetes.

Methods: Deidentified medical records for 637 Caucasian patients with diabetes (223 with DR) were obtained from BioVU, Vanderbilt University's electronic, deidentified DNA databank. An additional 197 Caucasian patients with diabetes (98 with DR) were enrolled from the Vanderbilt Eye Institute (VEI). We tested for an association between European mitochondrial haplogroups and DR status.

Results: The percentage of diabetes patients with DR did not differ across the haplogroups (P = 0.32). The percentage of patients with nonproliferative DR (NPDR; P = 0.0084) and with PDR (P = 0.027) significantly differed across the haplogroups. In logistic regressions adjusting for sex, age, diabetes type, duration of diabetes, and hemoglobin A1c, neither haplogroup H nor haplogroup UK had a significant effect on DR compared with diabetic controls. Haplogroup UK was a significant risk factor (OR = 1.72 [1.13-2.59], P = 0.010) for NPDR compared with diabetic controls in the unadjusted analysis, but not in the adjusted analysis (OR = 1.29 [0.79-2.10], P = 0.20).

Conclusions: Mitochondrial haplogroups H and UK were associated with severity, but not presence, of DR. These data argue that the effect of these haplogroups is related to ischemia and neovascularization, the defining features of PDR.

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Figures

Figure 1
Figure 1
Distribution of the DR disease states across the major European mitochondrial haplogroups H and UK. (A) Proportion of patients in each haplogroup with any diabetic retinopathy (NPDR and PDR combined). (B) Proportion with NPDR (H = 61/402, UK = 44/168, other = 49/264). (C) Proportion with PDR (H = 96/402, UK = 27/168, other = 44/264). P values are from χ2 tests.
Figure 2
Figure 2
Results for logistic regression of haplogroup on DR state. Odds ratios and 95% CIs are shown for the effect of the haplogroup in the regression for simple unadjusted regression (circles) and regressions adjusted for sex, diabetes type, diabetes duration, and HgbA1c level (triangles). (A) Odds ratios for haplogroup H as a variable (subjects in haplogroup H = 1, subjects not in haplogroup H = 0). (B) Odds ratios for haplogroup UK as a variable.
See this image and copyright information in PMC

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