Rare genetic variants in the CFI gene are associated with advanced age-related macular degeneration and commonly result in reduced serum factor I levels.

Hum Mol Genet
Authors
David Kavanagh
Yi Yu
Elizabeth Schramm
Michael Triebwasser
Erin Wagner
Soumya Raychaudhuri
Mark Daly
John Atkinson
Johanna Seddon
Keywords
Female
Humans
Male
Genetic Variation
Macular Degeneration
Fibrinogen
Complement Factor I
Abstract

To assess a potential diagnostic and therapeutic biomarker for age-related macular degeneration (AMD), we sequenced the complement factor I gene (CFI) in 2266 individuals with AMD and 1400 without, identifying 231 individuals with rare genetic variants. We evaluated the functional impact by measuring circulating serum factor I (FI) protein levels in individuals with and without rare CFI variants. The burden of very rare (frequency

Year of Publication
2015
Journal
Hum Mol Genet
Volume
24
Issue
13
Pages
3861-70
Date Published
2015 Jul 01
ISSN
1460-2083
URL
http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=25788521
DOI
10.1093/hmg/ddv091
PubMed ID
25788521
PubMed Central ID
PMC4459386
Links
Grant list
K08AR055688 / AR / NIAMS NIH HHS / United States
R01-EY11309 / EY / NEI NIH HHS / United States
R01-AI041592 / AI / NIAID NIH HHS / United States
P30 AR48335 / AR / NIAMS NIH HHS / United States
U54 HL112303 / HL / NHLBI NIH HHS / United States
U01HG0070033 / HG / NHGRI NIH HHS / United States
F30HL103072 / HL / NHLBI NIH HHS / United States
Wellcome Trust / United Kingdom

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