A 32 kb critical region excluding Y402H in CFH mediates risk for age-related macular degeneration (Q34055667)

30 July 2017

title

A 32 kb critical region excluding Y402H in CFH mediates risk for age-related macular degeneration (English)

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Gyungah Jun

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Ronnie George

Ronnie George

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Mark Seielstad

Mark Seielstad

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Ronald Klein

Ronald Klein

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Paul Mitchell

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Paul Mitchell

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Sudha K Iyengar

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Emily Chew

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Emily Y Chew

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Deborah A Nickerson

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Evan E Eichler

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Andy Itsara

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Lingam Vijaya

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Govindasamy Kumaramanickavel

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Govindasamy Kumaramanickavel

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Liping Tian

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Manmath Kumar Das

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Laura J Kopplin

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Feiyou Qiu

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Theru A Sivakumaran

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Robert P Igo

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Wei Chen

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Stephanie A Hagstrom

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Neal S Peachey

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Peter J Francis

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Michael L Klein

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Vedam L Ramprasad

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Wan-Ting Tay

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Dwight E Stambolian

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Albert O Edwards

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Kristine E Lee

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Dmitry V Leontiev

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Yang Wang

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Alice K Henning

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Thomas LaFramboise

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Parveen Sen

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Manoharan Aarthi

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Rajiv Raman

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Tien Y Wong

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Barbara E K Klein

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30 July 2017

language of work or name

English

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publication date

12 October 2011

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30 July 2017

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volume

6

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issue

10

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page(s)

e25598

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Creative Commons Attribution 4.0 International

30 July 2017

copyright license

start time

12 October 2011

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3192039

An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD)

28 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3192039

Associations of CFHR1-CFHR3 deletion and a CFH SNP to age-related macular degeneration are not independent

28 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3192039

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

28 July 2018

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

28 July 2018

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28 July 2018

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28 July 2018

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Prediction model for prevalence and incidence of advanced age-related macular degeneration based on genetic, demographic, and environmental variables

28 July 2018

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Haplotype sorting using human fosmid clone end-sequence pairs

28 July 2018

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Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs

28 July 2018

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Integrated detection and population-genetic analysis of SNPs and copy number variation

28 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3192039

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

28 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3192039

Rhesus monkeys and humans share common susceptibility genes for age-related macular disease

28 July 2018

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Mapping and sequencing of structural variation from eight human genomes

28 July 2018

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Measurement of factor H variants in plasma using variant-specific monoclonal antibodies: application to assessing risk of age-related macular degeneration

28 July 2018

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PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

28 July 2018

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PLINK: a tool set for whole-genome association and population-based linkage analyses

28 July 2018

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3192039

Completing the map of human genetic variation

28 July 2018

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28 July 2018

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28 July 2018

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Two genetic pathways for age-related macular degeneration.

28 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3192039

Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration: characterization, ethnic distribution and evolutionary implications

28 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3192039

A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3192039

CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3192039

Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3192039

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3192039

A comparison of phasing algorithms for trios and unrelated individuals

28 July 2018

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

28 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3192039

A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration

28 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3192039

Complement factor H polymorphism in age-related macular degeneration

28 July 2018

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Complement factor H polymorphism and age-related macular degeneration

28 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3192039

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

28 July 2018

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28 July 2018

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Dissection of genomewide-scan data in extended families reveals a major locus and oligogenic susceptibility for age-related macular degeneration

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3192039

A whole-genome screen of a quantitative trait of age-related maculopathy in sibships from the Beaver Dam Eye Study

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3192039

Recent segmental duplications in the human genome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3192039

A New Statistical Method for Haplotype Reconstruction from Population Data

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3192039

Functional properties of complement factor H-related proteins FHR-3 and FHR-4: binding to the C3d region of C3b and differential regulation by heparin

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3192039

Ten-year incidence of age-related maculopathy and smoking and drinking: the Beaver Dam Eye Study

28 July 2018

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Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0025598

Factor H family proteins and human diseases

21 January 2018

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Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0025598

Prevalence of age-related maculopathy. The Beaver Dam Eye Study

21 January 2018

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12 December 2020

Complement factor H and hemicentin-1 in age-related macular degeneration and renal phenotypes

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12 December 2020

Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration

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12 December 2020

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12 December 2020

Each of the three binding sites on complement factor H interacts with a distinct site on C3b

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12 December 2020

10.1371/JOURNAL.PONE.0025598

Identifiers

DOI

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30 July 2017

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