Age-related macular degeneration associated polymorphism rs10490924 in ARMS2 results in deficiency of a complement activator.

Sven MicklischYuchen LinSaskia JacobMarcus KarlstetterKatharina DannhausenPrasad DasariMonika von der HeideHans-Martin DahseLisa SchmölzFelix GrassmannMedhanie AleneSascha FauserHarald NeumannStefan LorkowskiDiana PaulyBernhard H WeberAntonia M JoussenThomas LangmannPeter F ZipfelChristine Skerka

Published in: Journal of neuroinflammation (2017)

ARMS2 is likely involved in complement-mediated clearance of cellular debris. As AMD patients present with accumulated proteins and lipids on Bruch's membrane, ARMS2 protein deficiency due to the genetic risk variant might be involved in drusen formation.

Keyphrases

age related macular degeneration
end stage renal disease
newly diagnosed
chronic kidney disease
replacement therapy
genome wide
fatty acid
patient reported outcomes
copy number
protein protein
patient reported
optical coherence tomography