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

Patrick Sulem, Kari Stefansson and colleagues report the identification of a rare nonsynonymous variant in the C3 gene, encoding complement factor 3, that is associated with age-related macular degeneration. Through whole-genome sequencing of 2,230 Icelanders, we detected a rare nonsynonymous SNP (m...

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Veröffentlicht in:	Nature genetics 2013-11, Vol.45 (11), p.1371-1374
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	692/308/2056 Agriculture Amino Acid Substitution Animal Genetics and Genomics Base Sequence Biomedicine Cancer Research Chromosomes Complement Activation - genetics Complement C3 - genetics Complement C3b - immunology Complement C3b - metabolism Complement Factor H - immunology Complement Factor H - metabolism Confidence intervals Gene Frequency Gene Function Genetic Predisposition to Disease Genetic Variation Genome-Wide Association Study Genomes Genotype Genotype & phenotype Haplotypes Human Genetics Humans Iceland letter Logistics Macular degeneration Macular Degeneration - genetics Methods Polymorphism, Single Nucleotide Risk Sequence Analysis, DNA Vegetables
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