Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degeneration (Q33356232)

26 July 2017

Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degeneration (English)

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26 July 2017

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26 July 2017

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Igor Rudan

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Veronique Vitart

6

Veronique Vitart

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Paul Bishop

Paul N Bishop

22

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Ivana Kolcic

Ivana Kolcic

12

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Simon P. Harding

Simon P Harding

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Robert B. Sim

Robert B Sim

28

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Peter F Zipfel

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Peter F Zipfel

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26 July 2017

3

Christine Skerka

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26 July 2017

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Harry Campbell

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26 July 2017

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Ben A Oostra

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26 July 2017

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Ian J Deary

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26 July 2017

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Jennifer Huffman

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Nicholas D Hastie

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Pavao Rudan

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Morad Ansari

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Zoran Vatavuk

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Chloe M Stanton

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26 July 2017

Cornelia M. van Duijn

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Cornelia M Van Duijn

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26 July 2017

Paul M McKeigue

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Ana-Maria Armbrecht

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John R W Yates

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Goran Bencic

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Susan Campbell

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Xinhua Shu

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Jane C Khan

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Humma Shahid

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26 July 2017

Anthony T Moore

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26 July 2017

Baljean Dhillon

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26 July 2017

Alan F Wright

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26 July 2017

language of work or name

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19 July 2013

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26 July 2017

Human Molecular Genetics

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26 July 2017

22

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26 July 2017

4857-4869

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26 July 2017

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Therapeutic levels of FVIII following a single peripheral vein administration of rAAV vector encoding a novel human factor VIII variant

26 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

Fast and accurate genotype imputation in genome-wide association studies through pre-phasing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

Instrumental variable estimation of the causal effect of plasma 25-hydroxy-vitamin D on colorectal cancer risk: a mendelian randomization analysis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

Genotype imputation with thousands of genomes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

Complement factor H binds malondialdehyde epitopes and protects from oxidative stress

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

Disease-associated N-terminal complement factor H mutations perturb cofactor and decay-accelerating activities

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

Using multiple genetic variants as instrumental variables for modifiable risk factors

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

Impaired binding of the age-related macular degeneration-associated complement factor H 402H allotype to Bruch's membrane in human retina.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

Bayesian methods for instrumental variable analysis with genetic instruments ('Mendelian randomization'): example with urate transporter SLC2A9 as an instrumental variable for effect of urate levels on metabolic syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

Complement factor H binds at two independent sites to C-reactive protein in acute phase concentrations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

Characterization of complement factor H-related (CFHR) proteins in plasma reveals novel genetic variations of CFHR1 associated with atypical hemolytic uremic syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

Plasma complement components and activation fragments: associations with age-related macular degeneration genotypes and phenotypes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

The disease-protective complement factor H allotypic variant Ile62 shows increased binding affinity for C3b and enhanced cofactor activity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

A flexible and accurate genotype imputation method for the next generation of genome-wide association studies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

Systemic complement activation in age-related macular degeneration

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

Anti-VEGF therapy: comparison of current and future agents

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

Effect of gene therapy on visual function in Leber's congenital amaurosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

Safety and efficacy of gene transfer for Leber's congenital amaurosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

Translational mini-review series on complement factor H: renal diseases associated with complement factor H: novel insights from humans and animals.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

Review of genetics in age related macular degeneration.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

Translational mini-review series on complement factor H: genetics and disease associations of human complement factor H.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

Family-based association tests for genomewide association scans

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

Structural basis for complement factor H linked age-related macular degeneration

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

Genomewide rapid association using mixed model and regression: a fast and simple method for genomewide pedigree-based quantitative trait loci association analysis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

GenABEL: an R library for genome-wide association analysis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

Structure shows that a glycosaminoglycan and protein recognition site in factor H is perturbed by age-related macular degeneration-linked single nucleotide polymorphism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

An update on the genetics of age-related macular degeneration.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

Heritabilities, apolipoprotein E, and effects of inbreeding on plasma lipids in a genetically isolated population: the Erasmus Rucphen Family Study

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

Complement factor H polymorphism, complement activators, and risk of age-related macular degeneration

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

The impact of Vision 2020 on global blindness

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

Successful plasma therapy for atypical hemolytic uremic syndrome caused by factor H deficiency owing to a novel mutation in the complement cofactor protein domain 15.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

An integrated hypothesis that considers drusen as biomarkers of immune-mediated processes at the RPE-Bruch's membrane interface in aging and age-related macular degeneration

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

FHL-1/reconectin: a human complement and immune regulator with cell-adhesive function

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

Multipoint quantitative-trait linkage analysis in general pedigrees

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

The human complement regulatory factor-H-like protein 1, which represents a truncated form of factor H, displays cell-attachment activity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

Complement factor I and cofactors in control of complement system convertase enzymes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

Kinetic PCR Analysis: Real-time Monitoring of DNA Amplification Reactions

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

Monoclonal antibodies against the complement control protein Factor H (β1 H)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

Human complement factor H: two factor H proteins are derived from alternatively spliced transcripts

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

Molecular cloning of a human serum protein structurally related to complement factor H

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820139

21 June 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT336

Genetic and environmental factors influencing the human factor H plasma levels

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT336

Relevance of complement factor H-related 1 (CFHR1) genotypes in age-related macular degeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT336

Validation of a prediction algorithm for progression to advanced macular degeneration subtypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT336

Improved whole-chromosome phasing for disease and population genetic studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT336

Instrumental Variable Estimation of Causal Risk Ratios and Causal Odds Ratios in Mendelian Randomization Analyses

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT336

'Mendelian randomization' equals instrumental variable analysis with genetic instruments

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT336

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23873044

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Association of CFH Y402H and LOC387715 A69S with progression of age-related macular degeneration

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23873044

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Analysis of the recognition mechanism of the alternative pathway of complement by monoclonal anti-factor H antibodies: evidence for multiple interactions between H and surface bound C3b

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23873044

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDT336

1 reference

26 July 2017

1 reference

26 July 2017

1 reference