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A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration.

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Authors
Helgason, Hannes
Sulem, Patrick
Duvvari, Maheswara R
Luo, Hongrong
Thorleifsson, Gudmar
Stefansson, Hreinn
Jonsdottir, Ingileif
Masson, Gisli
Gudbjartsson, Daniel F
Walters, G Bragi
Magnusson, Olafur Th
Kong, Augustine
Rafnar, Thorunn
Kiemeney, Lambertus A
Schoenmaker-Koller, Frederieke E
Zhao, Ling
Boon, Camiel J F
Song, Yaojun
Fauser, Sascha
Pei, Michelle
Ristau, Tina
Patel, Shirrina
Liakopoulos, Sandra
van de Ven, Johannes P H
Hoyng, Carel B
Ferreyra, Henry
Duan, Yaou
Bernstein, Paul S
Geirsdottir, Asbjorg
Helgadottir, Gudleif
Stefansson, Einar
den Hollander, Anneke I
Zhang, Kang
Jonasson, Fridbert
Sigurdsson, Haraldur
Thorsteinsdottir, Unnur
Stefansson, Kari
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Issue Date
2013-11

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Citation
Nat. Genet. 2013, 45 (11):1371-4
Abstract
Through whole-genome sequencing of 2,230 Icelanders, we detected a rare nonsynonymous SNP (minor allele frequency = 0.55%) in the C3 gene encoding a p.Lys155Gln substitution in complement factor 3, which, following imputation into a set of Icelandic cases with age-related macular degeneration (AMD) and controls, associated with disease (odds ratio (OR) = 3.45; P = 1.1 × 10(-7)). This signal is independent of the previously reported common SNPs in C3 encoding p.Pro314Leu and p.Arg102Gly that associate with AMD. The association of p.Lys155Gln was replicated in AMD case-control samples of European ancestry with OR = 4.22 and P = 1.6 × 10(-10), resulting in OR = 3.65 and P = 8.8 × 10(-16) for all studies combined. In vitro studies have suggested that the p.Lys155Gln substitution reduces C3b binding to complement factor H, potentially creating resistance to inhibition by this factor. This resistance to inhibition in turn is predicted to result in enhanced complement activation.
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http://dx.doi.org/10.1038/ng.2740
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Archived with thanks to Nature genetics
ae974a485f413a2113503eed53cd6c53
10.1038/ng.2740
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English Journal Articles (Peer Reviewed)

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