Aging, Author Interviews, Genetic Research, JAMA, Macular Degeneration, Ophthalmology / 08.12.2016
Complement Genes Play Role in Age-Related Macular Degeneration
MedicalResearch.com Interview with:
Anneke I. den Hollander, PhD
Department of Ophthalmology and Department of Human Genetics
Donders Institute for Brain, Cognition, and Behaviour
Radboud University Medical Center
Nijmegen, the Netherland
MedicalResearch.com: What is the background for this study? What are the main findings?
Response: Age-related macular degeneration is caused by a combination of genetic and environmental factors. Rare genetic variants in the complement system have been described in AMD, but their effect remains largely unexplored. In this study we aimed to determine the effect of rare genetic variants in the complement system on complement levels and activity in serum.
MedicalResearch.com: What are the main findings?
Response: Carriers of CFI variants showed decreased FI levels, carriers of C9 Pro167Ser had increased C9 levels, while C3 and FH levels were not altered. Carriers of CFH and CFI variants had a reduced ability to degrade C3b, which for CFI was linked to reduced serum FI levels.
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