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
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.
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.