Identification of a rare coding variant in complement 3 associated with age-related macular degeneration (Q37265929)

19 August 2017

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

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19 August 2017

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59

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19 August 2017

Cornelia M. van Duijn

24

Margaret A. Pericak-Vance

Cornelia M van Duijn

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51

Margaret A Pericak-Vance

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Valentina Cipriani

Valentina Cipriani

25

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Felix Grassmann

Felix Grassmann

19

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Goo Jun

Goo Jun

11

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Fred G Pluthero

Fred G Pluthero

39

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Paul N. Baird

Paul N Baird

42

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Robyn H. Guymer

Robyn H Guymer

35

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Daniel E. Weeks

Daniel E Weeks

47

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Lindsay A. Farrer

Lindsay A Farrer

45

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Ivana K Kim

Ivana K Kim

31

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Dwight Stambolian

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Dwight Stambolian

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19 August 2017

43

John Blangero

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19 August 2017

23

Albert Hofman

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19 August 2017

52

Jonathan L Haines

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Matthew Brooks

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Rinki Ratnapriya

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Mohammad Othman

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19 August 2017

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Emily Y Chew

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Elaine R Mardis

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Yvette P Conley

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Bernhard H F Weber

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60

Goncalo R Abecasis

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19 August 2017

9

Kari E Branham

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19 August 2017

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John R Heckenlively

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19 August 2017

Gabriëlle H S Buitendijk

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Gabriëlle H S Buitendijk

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Denise J Morgan

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Andrea J Richardson

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Humma Shahid

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Caroline C W Klaver

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Yuri V Sergeev

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Lana M Olson

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Yingda Jiang

1 reference

19 August 2017

Jennifer Bragg-Gresham

10

Jennifer Bragg-Gresham

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19 August 2017

18

Alexis Boleda

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19 August 2017

36

Hongrong Luo

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19 August 2017

Claudia N von Strachwitz

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Claudia von Strachwitz

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19 August 2017

46

Margaret M DeAngelis

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19 August 2017

Xiaowei Zhan

1

1 reference

19 August 2017

David E Larson

2

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19 August 2017

Chaolong Wang

3

1 reference

19 August 2017

Daniel C Koboldt

4

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19 August 2017

Robert S Fulton

6

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19 August 2017

Lucinda L Fulton

7

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19 August 2017

Catrina C Fronick

8

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19 August 2017

Youna Hu

12

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19 August 2017

Hyun Min Kang

13

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19 August 2017

Dajiang Liu

14

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19 August 2017

Anthony T Moore

26

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19 August 2017

Matthew P Johnson

32

1 reference

19 August 2017

Stuart Cantsilieris

33

1 reference

19 August 2017

Hong Ouyang

37

1 reference

19 August 2017

Christoph Licht

38

1 reference

19 August 2017

Mindy M Zhang

40

1 reference

19 August 2017

Kang Zhang

41

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19 August 2017

Michael L Klein

44

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19 August 2017

Michael B Gorin

48

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19 August 2017

John R W Yates

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19 August 2017

Richard K Wilson

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19 August 2017

language of work or name

English

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publication date

15 September 2013

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19 August 2017

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19 August 2017

45

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11

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19 August 2017

1375-1379

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Seven new loci associated with age-related macular degeneration

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812337

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812337

An integrated map of genetic variation from 1,092 human genomes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812337

Detecting and estimating contamination of human DNA samples in sequencing and array-based genotype data

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812337

Genetic studies of age-related macular degeneration: lessons, challenges, and opportunities for disease management

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812337

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812337

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812337

A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812337

Rare-variant association testing for sequencing data with the sequence kernel association test

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812337

Common polymorphisms in C3, factor B, and factor H collaborate to determine systemic complement activity and disease risk

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812337

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812337

Pooled association tests for rare variants in exon-resequencing studies

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812337

Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812337

The binding of factor H to a complex of physiological polyanions and C3b on cells is impaired in atypical hemolytic uremic syndrome.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812337

Fast and accurate short read alignment with Burrows-Wheeler transform

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812337

Unraveling a multifactorial late-onset disease: from genetic susceptibility to disease mechanisms for age-related macular degeneration

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812337

Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812337

Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812337

Variation near complement factor I is associated with risk of advanced AMD

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812337

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812337

Worldwide human relationships inferred from genome-wide patterns of variation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812337

A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812337

Variation in complement factor 3 is associated with risk of age-related macular degeneration

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812337

Complement C3 variant and the risk of age-related macular degeneration

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812337

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812337

HTRA1 promoter polymorphism in wet age-related macular degeneration

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812337

Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812337

Factor H and atypical hemolytic uremic syndrome: mutations in the C-terminus cause structural changes and defective recognition functions

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812337

Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812337

Susceptibility genes for age-related maculopathy on chromosome 10q26

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812337

Complement factor H polymorphism in age-related macular degeneration

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812337

Complement factor H polymorphism and age-related macular degeneration

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812337

Complement factor H variant increases the risk of age-related macular degeneration

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812337

Prevalence of age-related macular degeneration in the United States

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812337

Mutations in factor H reduce binding affinity to C3b and heparin and surface attachment to endothelial cells in hemolytic uremic syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812337

Structural and functional characterization of factor H mutations associated with atypical hemolytic uremic syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812337

Risk factors associated with age-related macular degeneration. A case-control study in the age-related eye disease study: Age-Related Eye Disease Study Report Number 3

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812337

Differential confounding of rare and common variants in spatially structured populations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812337

Racial variations in causes of vision loss in nursing homes: The Salisbury Eye Evaluation in Nursing Home Groups (SEEING) Study

3 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038/NG.2758

Mutations in factor H reduce binding affinity to C3b and heparin and surface attachment to endothelial cells in hemolytic uremic syndrome

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038/NG.2758

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812337

Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population

3 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24036949

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The central role of the propensity score in observational studies for causal effects

1 reference

Crossref

https://api.crossref.org/works/10.1038/NG.2758

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NG.2758

1 reference

Dimensions Publication ID

19 August 2017

0 references

1 reference

19 August 2017

PubMed publication ID

24036949

1 reference