Identification of a rare coding variant in complement 3 associated with age-related macular degeneration

Goncalo Abecasis and colleagues report identification of a rare coding variant in the complement 3 gene that is associated with age-related macular degeneration. Macular degeneration is a common cause of blindness in the elderly. To identify rare coding variants associated with a large increase in r...

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Published inNature genetics Vol. 45; no. 11; pp. 1375 - 1379
Main Authors Zhan, Xiaowei, Larson, David E, Wang, Chaolong, Koboldt, Daniel C, Sergeev, Yuri V, Fulton, Robert S, Fulton, Lucinda L, Fronick, Catrina C, Branham, Kari E, Bragg-Gresham, Jennifer, Jun, Goo, Hu, Youna, Kang, Hyun Min, Liu, Dajiang, Othman, Mohammad, Brooks, Matthew, Ratnapriya, Rinki, Boleda, Alexis, Grassmann, Felix, von Strachwitz, Claudia, Olson, Lana M, Buitendijk, Gabriëlle H S, Hofman, Albert, van Duijn, Cornelia M, Cipriani, Valentina, Moore, Anthony T, Shahid, Humma, Jiang, Yingda, Conley, Yvette P, Morgan, Denise J, Kim, Ivana K, Johnson, Matthew P, Cantsilieris, Stuart, Richardson, Andrea J, Guymer, Robyn H, Luo, Hongrong, Ouyang, Hong, Licht, Christoph, Pluthero, Fred G, Zhang, Mindy M, Zhang, Kang, Baird, Paul N, Blangero, John, Klein, Michael L, Farrer, Lindsay A, DeAngelis, Margaret M, Weeks, Daniel E, Gorin, Michael B, Yates, John R W, Klaver, Caroline C W, Pericak-Vance, Margaret A, Haines, Jonathan L, Weber, Bernhard H F, Wilson, Richard K, Heckenlively, John R, Chew, Emily Y, Stambolian, Dwight, Mardis, Elaine R, Swaroop, Anand, Abecasis, Goncalo R
Format Journal Article
LanguageEnglish
Published New York Nature Publishing Group US 01.11.2013
Nature Publishing Group
Subjects
631/208/1516
631/208/205
631/208/514
692/699
Aging
Agriculture
Algorithms
Animal Genetics and Genomics
Biomedicine
Cancer Research
Colleges & universities
Complement C3 - genetics
Complement C3 - metabolism
Complement Factor H - metabolism
Complement Pathway, Alternative - immunology
Gene Frequency
Gene Function
Genealogy
Genetic aspects
Genetic code
Genetic susceptibility
Genetic Variation
Genomes
Genomics
Genotype
Human Genetics
Hypotheses
Identification and classification
letter
Macular degeneration
Macular Degeneration - genetics
Polymorphism, Single Nucleotide
Proteins
Quality control
Testing
Online AccessGet full text
ISSN1061-4036
1546-1718
1546-1718
DOI10.1038/ng.2758

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Abstract Goncalo Abecasis and colleagues report identification of a rare coding variant in the complement 3 gene that is associated with age-related macular degeneration. Macular degeneration is a common cause of blindness in the elderly. To identify rare coding variants associated with a large increase in risk of age-related macular degeneration (AMD), we sequenced 2,335 cases and 789 controls in 10 candidate loci (57 genes). To increase power, we augmented our control set with ancestry-matched exome-sequenced controls. An analysis of coding variation in 2,268 AMD cases and 2,268 ancestry-matched controls identified 2 large-effect rare variants: previously described p.Arg1210Cys encoded in the CFH gene (case frequency ( f case ) = 0.51%; control frequency ( f control ) = 0.02%; odds ratio (OR) = 23.11) and newly identified p.Lys155Gln encoded in the C3 gene ( f case = 1.06%; f control = 0.39%; OR = 2.68). The variants suggest decreased inhibition of C3 by complement factor H, resulting in increased activation of the alternative complement pathway, as a key component of disease biology.
AbstractList Macular degeneration is a common cause of blindness in the elderly. To identify rare coding variants associated with a large increase in risk of age-related macular degeneration (AMD), we sequenced 2,335 cases and 789 controls in 10 candidate loci (57 genes). To increase power, we augmented our control set with ancestry-matched exome-sequenced controls. An analysis of coding variation in 2,268 AMD cases and 2,268 ancestry-matched controls identified 2 large-effect rare variants: previously described p.Arg1210Cys encoded in the CFH gene (case frequency (fcase) = 0.51%; control frequency (fcontrol) = 0.02%; odds ratio (OR) = 23.11) and newly identified p.Lys155Gln encoded in the C3 gene (fcase = 1.06%; fcontrol = 0.39%; OR = 2.68). The variants suggest decreased inhibition of C3 by complement factor H, resulting in increased activation of the alternative complement pathway, as a key component of disease biology.
Macular degeneration is a common cause of blindness in the elderly. To identify rare coding variants associated with a large increase in risk of age-related macular degeneration (AMD), we sequenced 2,335 cases and 789 controls in 10 candidate loci (57 genes). To increase power, we augmented our control set with ancestry-matched exome-sequenced controls. An analysis of coding variation in 2,268 AMD cases and 2,268 ancestry-matched controls identified 2 large-effect rare variants: previously described p.Arg1210Cys encoded in the CFH gene (case frequency (fcase) = 0.51%; control frequency (fcontrol) = 0.02%; odds ratio (OR) = 23.11) and newly identified p.Lys155Gln encoded in the C3 gene (fcase = 1.06%; fcontrol = 0.39%; OR = 2.68). The variants suggest decreased inhibition of C3 by complement factor H, resulting in increased activation of the alternative complement pathway, as a key component of disease biology.Macular degeneration is a common cause of blindness in the elderly. To identify rare coding variants associated with a large increase in risk of age-related macular degeneration (AMD), we sequenced 2,335 cases and 789 controls in 10 candidate loci (57 genes). To increase power, we augmented our control set with ancestry-matched exome-sequenced controls. An analysis of coding variation in 2,268 AMD cases and 2,268 ancestry-matched controls identified 2 large-effect rare variants: previously described p.Arg1210Cys encoded in the CFH gene (case frequency (fcase) = 0.51%; control frequency (fcontrol) = 0.02%; odds ratio (OR) = 23.11) and newly identified p.Lys155Gln encoded in the C3 gene (fcase = 1.06%; fcontrol = 0.39%; OR = 2.68). The variants suggest decreased inhibition of C3 by complement factor H, resulting in increased activation of the alternative complement pathway, as a key component of disease biology.
Macular degeneration is a common cause of blindness in the elderly. To identify rare coding variants associated with a large increase in risk of age-related macular degeneration (AMD), we sequenced 2,335 cases and 789 controls in 10 candidate loci (57 genes). To increase power, we augmented our control set with ancestry-matched exome-sequenced controls. An analysis of coding variation in 2,268 AMD cases and 2,268 ancestry-matched controls identified 2 large-effect rare variants: previously described p.Arg1210Cys encoded in the CFH gene (case frequency (f sub(case)) = 0.51%; control frequency (f sub(control)) = 0.02%; odds ratio (OR) = 23.11) and newly identified p.Lys155Gln encoded in the C3 gene (f sub(case) = 1.06%; f sub(control) = 0.39%; OR = 2.68). The variants suggest decreased inhibition of C3 by complement factor H, resulting in increased activation of the alternative complement pathway, as a key component of disease biology.
Goncalo Abecasis and colleagues report identification of a rare coding variant in the complement 3 gene that is associated with age-related macular degeneration. Macular degeneration is a common cause of blindness in the elderly. To identify rare coding variants associated with a large increase in risk of age-related macular degeneration (AMD), we sequenced 2,335 cases and 789 controls in 10 candidate loci (57 genes). To increase power, we augmented our control set with ancestry-matched exome-sequenced controls. An analysis of coding variation in 2,268 AMD cases and 2,268 ancestry-matched controls identified 2 large-effect rare variants: previously described p.Arg1210Cys encoded in the CFH gene (case frequency ( f case ) = 0.51%; control frequency ( f control ) = 0.02%; odds ratio (OR) = 23.11) and newly identified p.Lys155Gln encoded in the C3 gene ( f case = 1.06%; f control = 0.39%; OR = 2.68). The variants suggest decreased inhibition of C3 by complement factor H, resulting in increased activation of the alternative complement pathway, as a key component of disease biology.
Macular degeneration is a common cause of blindness in the elderly. To identify rare coding variants associated with a large increase in risk of age-related macular degeneration (AMD), we sequenced 2,335 cases and 789 controls in 10 candidate loci (57 genes). To increase power, we augmented our control set with ancestry-matched exome-sequenced controls. An analysis of coding variation in 2,268 AMD cases and 2,268 ancestry-matched controls identified 2 large-effect rare variants: previously described p.Arg1210Cys encoded in the CFH gene (case frequency (fcase) = 0.51 %; control frequency (/control) = 0.02%; odds ratio (OR) = 23.11) and newly identified p.Lys155Gln encoded in the C3 gene (/case = 1.06%; /control = 0.39%; OR = 2.68). The variants suggest decreased inhibition of C3 by complement factor H, resulting in increased activation of the alternative complement pathway, as a key component of disease biology. [PUBLICATION ABSTRACT]
Macular degeneration is a common cause of blindness in the elderly. To identify rare coding variants associated with a large increase in risk of age-related macular degeneration (AMD), we sequenced 2,335 cases and 789 controls in 10 candidate loci (57 genes). To increase power, we augmented our control set with ancestry-matched exome sequenced controls. An analysis of coding variation in 2,268 AMD cases and 2,268 ancestry matched controls revealed two large-effect rare variants; previously described R1210C in the CFH gene (fcase = 0.51%, fcontrol = 0.02%, OR = 23.11), and newly identified K155Q in the C3 gene (fcase = 1.06%, fcontrol = 0.39%, OR = 2.68). The variants suggest decreased inhibition of C3 by Factor H, resulting in increased activation of the alternative complement pathway, as a key component of disease biology.
Audience Academic
Author Wilson, Richard K
Ratnapriya, Rinki
Othman, Mohammad
Olson, Lana M
Johnson, Matthew P
Bragg-Gresham, Jennifer
Wang, Chaolong
Weeks, Daniel E
Zhang, Mindy M
Cantsilieris, Stuart
Pluthero, Fred G
Fulton, Robert S
Sergeev, Yuri V
Luo, Hongrong
Kim, Ivana K
Weber, Bernhard H F
Fulton, Lucinda L
Moore, Anthony T
Shahid, Humma
Boleda, Alexis
Swaroop, Anand
Yates, John R W
Abecasis, Goncalo R
Richardson, Andrea J
Haines, Jonathan L
Brooks, Matthew
Koboldt, Daniel C
Hu, Youna
Ouyang, Hong
Hofman, Albert
Baird, Paul N
Klaver, Caroline C W
DeAngelis, Margaret M
Cipriani, Valentina
Grassmann, Felix
Mardis, Elaine R
Guymer, Robyn H
Chew, Emily Y
Zhan, Xiaowei
Stambolian, Dwight
Larson, David E
Pericak-Vance, Margaret A
Klein, Michael L
van Duijn, Cornelia M
Jiang, Yingda
Buitendijk, Gabriëlle H S
Gorin, Michael B
Conley, Yvette P
Zhang, Kang
Farrer, Lindsay A
Morgan, Denise J
Fronick, Catrina C
Liu, Dajiang
Licht, Christoph
Kang, Hyun Min
Branham, Kari E
Jun, Goo
Heckenlively, John R
von Strachwitz, Claudia
Blangero, John
AuthorAffiliation 28 Macular Degeneration Center, Casey Eye Institute, Oregon Health & Science University, Portland, OR
3 Department of Biostatistics, Harvard School of Public Health, Boston, MA
17 Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK
23 Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia
21 Retina Service and Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA
25 Institute for Genomic Medicine, University of California, San Diego, La Jolla, CA
32 Departments of Neurology, Boston University Schools of Medicine, Boston, MA
8 Southwest Eye Center, Stuttgart, Germany
20 Department of Ophthalmology and Visual Sciences, John A Moran Eye Center, University of Utah, Salt Lake City, UT
1 Center for Statistical Genetics, Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, MI
10 Department of Molecular Physiology and Biophysics, Vanderbilt Uni
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  surname: Abecasis
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  email: goncalo@umich.edu
  organization: Department of Biostatistics, Center for Statistical Genetics, University of Michigan School of Public Health
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Snippet Goncalo Abecasis and colleagues report identification of a rare coding variant in the complement 3 gene that is associated with age-related macular...
Macular degeneration is a common cause of blindness in the elderly. To identify rare coding variants associated with a large increase in risk of age-related...
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pubmedcentral
proquest
gale
pubmed
crossref
springer
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Aggregation Database
Index Database
Enrichment Source
Publisher
StartPage 1375
SubjectTerms 631/208/1516
631/208/205
631/208/514
692/699
Aging
Agriculture
Algorithms
Animal Genetics and Genomics
Biomedicine
Cancer Research
Colleges & universities
Complement C3 - genetics
Complement C3 - metabolism
Complement Factor H - metabolism
Complement Pathway, Alternative - immunology
Gene Frequency
Gene Function
Genealogy
Genetic aspects
Genetic code
Genetic susceptibility
Genetic Variation
Genomes
Genomics
Genotype
Human Genetics
Hypotheses
Identification and classification
letter
Macular degeneration
Macular Degeneration - genetics
Polymorphism, Single Nucleotide
Proteins
Quality control
Testing
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Title Identification of a rare coding variant in complement 3 associated with age-related macular degeneration
URI https://link.springer.com/article/10.1038/ng.2758
https://www.ncbi.nlm.nih.gov/pubmed/24036949
https://www.proquest.com/docview/1467256299
https://www.proquest.com/docview/1447105215
https://www.proquest.com/docview/1554943187
https://pubmed.ncbi.nlm.nih.gov/PMC3812337
http://doi.org/10.1038/ng.2758
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