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

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)...

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Bibliographic Details
Published in:Nature genetics, Vol. 45, No. 11 (2013), p. 1371-4
Main Author: Helgason, Hannes
Other Involved Persons: 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
Format: electronic Article
Language:English
ISSN:1061-4036
Item Description:Date Completed 08.01.2014
Date Revised 13.11.2018
published: Print-Electronic
Citation Status MEDLINE
Copyright: From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Physical Description:Online-Ressource
DOI:10.1038/ng.2740
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