April 2014
Volume 55, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2014
A new gene associated with Macular Pigment Optical Density
Author Affiliations & Notes
  • Gabriëlle HS Buitendijk
    Ophthalmology, Erasmus Medical Center, Rotterdam, Netherlands
    Epidemiology, Erasmus Medical Center, Rotterdam, Netherlands
  • Johannes R Vingerling
    Ophthalmology, Erasmus Medical Center, Rotterdam, Netherlands
    Epidemiology, Erasmus Medical Center, Rotterdam, Netherlands
  • Albert Hofman
    Epidemiology, Erasmus Medical Center, Rotterdam, Netherlands
    Netherlands Consortium for Healthy Aging, Netherlands Genomics Initiative, the Hague, Netherlands
  • André G Uitterlinden
    Epidemiology, Erasmus Medical Center, Rotterdam, Netherlands
    Internal Medicine, Erasmus Medical Center, Rotterdam, Netherlands
  • Tos TJM Berendschot
    University Eye Clinic Maastricht, Maastricht, Netherlands
  • Caroline C W Klaver
    Ophthalmology, Erasmus Medical Center, Rotterdam, Netherlands
    Epidemiology, Erasmus Medical Center, Rotterdam, Netherlands
  • Footnotes
    Commercial Relationships Gabriëlle Buitendijk, None; Johannes Vingerling, None; Albert Hofman, None; André Uitterlinden, None; Tos TJM Berendschot, None; Caroline Klaver, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science April 2014, Vol.55, 1276. doi:
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      Gabriëlle HS Buitendijk, Johannes R Vingerling, Albert Hofman, André G Uitterlinden, Tos TJM Berendschot, Caroline C W Klaver; A new gene associated with Macular Pigment Optical Density. Invest. Ophthalmol. Vis. Sci. 2014;55(13):1276.

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

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Abstract

Purpose: The interest in macular pigment has increased since it appears important in several macula-related diseases. To understand more of the genetic architecture of macular pigment, we investigated the genetics of macular pigment optical density in the general population.

Methods: Macular pigment optical density (MPOD) was measured in participants of the Rotterdam Study using foveal reflection analyzer by cone-specific directional reflectance. Genomic DNA was genotyped using the Illumina Human610-Quad Array and imputed to 1000Genomes Phase I V3. We conducted a genome-wide analysis (GWAS) in the population-based Rotterdam Study including 2549 participants. Gene function and pathwayswere investigated using Ingenuity IPA.

Results: We found one new gene for MPOD, and replicated the previously associated gene BRCMO1. The new gene has a transporter function, which plays a role in lipid homeostasis and is expressed in the retina. Via the lipid metabolism pathway, the newly found gene could be linked to previous associated MPOD genes (P=3.24 x 10-11).

Conclusions: A new gene is associated with MPOD, with plausible gene function in the lipid metabolism pathway.

Keywords: 587 macular pigment • 539 genetics • 585 macula/fovea  
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