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A new gene associated with macular pigment optical density

Session Details

Session Title: Quick Fire Free Paper 4

Session Date/Time: Sunday 14/09/2014 | 08:00-10:00

Paper Time: 08:00

Venue: Boulevard B

First Author: : G.Buitendijk THE NETHERLANDS

Co Author(s): :    J. Vingerling   A. Hofman   A. Uitterlinden   T. Berendschot   C. Klaver  

Abstract Details


The interest in macular pigment has increased since it appears important for age-related macular degeneration. To understand more of the genetic architecture of macular pigment, we investigated the genetics of macular pigment optical density in the general population.


Population-based cohort


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 pathways were investigated using Ingenuity IPA.


We found one new gene for MPOD, and replicated the previously associated gene BCMO1 . 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 previously 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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