September 2016
Volume 57, Issue 12
Open Access
ARVO Annual Meeting Abstract  |   September 2016
Mitochondrial haplogroups and the presence of diabetic retinopathy
Author Affiliations & Notes
  • David Herren
    Ophthalmology, Vanderbilt University Medical Center, Nashville, Tennessee, United States
  • Jana Bregman
    Ophthalmology, Vanderbilt University Medical Center, Nashville, Tennessee, United States
  • Christopher Estopinal
    Ophthalmology, Vanderbilt University Medical Center, Nashville, Tennessee, United States
  • Isaac Chocron
    Ophthalmology, Vanderbilt University Medical Center, Nashville, Tennessee, United States
  • David C. Samuels
    Vanderbilt Genetics Institute, Nashville, Tennessee, United States
  • Milam A Brantley
    Ophthalmology, Vanderbilt University Medical Center, Nashville, Tennessee, United States
  • Footnotes
    Commercial Relationships   David Herren, None; Jana Bregman, None; Christopher Estopinal, None; Isaac Chocron, None; David Samuels, None; Milam Brantley, None
  • Footnotes
    Support  National Eye Institute Grant EY22618 (MAB), the International Retinal Research Foundation (MAB), Core Grant P30 EY08126 to Vanderbilt University, Clinical & Translational Science Awards (CTSA) Award No. UL1TR000445 from the National Center for Advancing Translational Sciences, and an unrestricted departmental grant to Vanderbilt University from Research to Prevent Blindness. Genome-wide genotyping was funded by National Institutes of Health Grants RC2GM092618 from National Institute of General Medical Sciences (Office of the Director) and U01HG004603 from National Human Genome Research Institute & National Institute of General Medical Sciences.
Investigative Ophthalmology & Visual Science September 2016, Vol.57, 2649. doi:
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    • Get Citation

      David Herren, Jana Bregman, Christopher Estopinal, Isaac Chocron, David C. Samuels, Milam A Brantley; Mitochondrial haplogroups and the presence of diabetic retinopathy. Invest. Ophthalmol. Vis. Sci. 2016;57(12):2649.

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

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Abstract

Purpose : Our lab previously demonstrated mitochondrial haplogroup H to be a risk factor proliferative diabetic retinopathy (PDR) and haplogroup Uk to be protective against PDR among diabetics with retinopathy (DR). The purpose of this study was to determine whether haplogroups H and Uk are also associated with risk and protection from DR, and more specifically nonproliferative DR (NPDR), among patients with diabetes mellitus (DM).

Methods : Medical records for Caucasian patients with DM (223 with DR, 414 without DR) were obtained from BioVU, Vanderbilt’s electronic, deidentified DNA databank. International Statistical Classification of Diseases (ICD-9) codes for DM with or without DR were used to identify subjects with available chip-level genotype data. BioVU records were manually reviewed, and diagnoses of DM, DR, NPDR, and PDR as well as demographics, DM type and duration, and hemoglobin A1c (HgbA1c) level, were determined. An additional 197 DM patients (91 with DR, 106 without DR) with full medical records were recruited from the Vanderbilt Eye Institute (VEI). VEI patients were genotyped using a Sequenom pool, and the mitochondrial haplogroup of all subjects was determined with HaploGrep. DM without DR was compared to DR and to NPDR by chi-square tests and by multivariate logistic regression adjusting for sex, DM type, duration of DM, and HgbA1c level.

Results : The percentage of DM patients with DR did not differ among the haplogroups (H=38%, Uk=41%, Other=35%; p=0.42). There was also no significant effect of haplogroup H (p=0.45) or haplogroup Uk (p=0.77) on the presence of DR among diabetics when adjusting for sex, DM type, duration of DM, and HgbA1c. In unadjusted analyses, diabetics with haplogroup Uk were more likely to have NPDR than diabetics with haplogroups H or Other (H=19%, Uk=30%, Other=21%; p=0.021). However, there was no significant effect of haplogroup H (p=0.11) or haplogroup Uk (p=0.22) on the presence of NPDR among diabetics after adjusting for covariates.

Conclusions : In this cohort, when adjusting for demographic and clinical covariates, there was no association between mitochondrial haplogroup H or Uk and the presence of DR or NPDR among diabetics. Taken together with previous data from our lab, this suggests that haplogroups H and Uk are not likely to influence the stepwise progression from DM without DR to NPDR to PDR, but are associated primarily with the transition from NPDR to PDR.

This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.

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