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