Common haplotypes at the CFH locus and low-frequency variants in CFHR2 and CFHR5 associate with systemic FHR concentrations and age-related macular degeneration

Beyond factor H: The impact of genetic-risk variants for age-related macular degeneration on circulating factor-H-like 1 and factor-H-related protein concentrations

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Increased circulating levels of Factor H-Related Protein 4 are strongly associated with age-related macular degeneration

(2020) Valentina Cipriani et al.   Nature Communications

A genome-wide association study identifies key modulators of complement factor H binding to malondialdehyde-epitopes

(2020) Lejla Alic et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Regulation of regulators: Role of the complement factor H-related proteins

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Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (CFH) gene family

(2018) Stuart Cantsilieris et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A mega-analysis of expression quantitative trait loci (eQTL) provides insight into the regulatory architecture of gene expression variation in liver

(2018) Tobias Strunz et al.   Scientific Reports

Complement Factor H-Related Protein 4A Is the Dominant Circulating Splice Variant of CFHR4

(2018) Richard B. Pouw et al.   Frontiers in Immunology

Self-Damage Caused by Dysregulation of the Complement Alternative Pathway: Relevance of the Factor H Protein Family

(2018) Pilar Sánchez-Corral et al.   Frontiers in Immunology

Age-related macular degeneration

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CADD: predicting the deleteriousness of variants throughout the human genome

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The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment

(2017) Maartje J. Geerlings et al.   MOLECULAR IMMUNOLOGY

Prevalence of Age-Related Macular Degeneration in Europe

(2017) Johanna M. Colijn et al.   OPHTHALMOLOGY

The Functional Effect of Rare Variants in Complement Genes on C3b Degradation in Patients With Age-Related Macular Degeneration

(2017) Maartje J. Geerlings et al.   JAMA Ophthalmology

Early and intermediate age-related macular degeneration: update and clinical review

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Global causes of blindness and distance vision impairment 1990–2020: a systematic review and meta-analysis

(2017) Seth R Flaxman et al.   Lancet Global Health

Factor H-Related (FHR)-1 and FHR-2 Form Homo- and Heterodimers, while FHR-5 Circulates Only As Homodimer in Human Plasma

(2017) Anna E. van Beek et al.   Frontiers in Immunology

Complement Factor H-Related Protein 3 Serum Levels Are Low Compared to Factor H and Mainly Determined by Gene Copy Number Variation in CFHR3

(2016) Richard B. Pouw et al.   PLoS One

Plasma levels of amyloid beta and other proinflammatory mediators in patients with age-related macular degeneration

(2015) Robyn Guymer et al.   GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

(2015) Lars G Fritsche et al.   NATURE GENETICS

The Incidence and Progression of Age-Related Macular Degeneration over 15 Years

(2015) Nichole Joachim et al.   OPHTHALMOLOGY

Global prevalence of age-related macular degeneration and disease burden projection for 2020 and 2040: a systematic review and meta-analysis

(2014) Wan Ling Wong et al.   Lancet Global Health

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

(2013) Morad Ansari et al.   HUMAN MOLECULAR GENETICS

Association between CFH Y402H Polymorphism and Age Related Macular Degeneration in North Indian Cohort

(2013) Neel Kamal Sharma et al.   PLoS One

Dimerization of complement factor H-related proteins modulates complement activation in vivo

(2013) E. Goicoechea de Jorge et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Optimal Unified Approach for Rare-Variant Association Testing with Application to Small-Sample Case-Control Whole-Exome Sequencing Studies

(2012) Seunggeun Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Optimal tests for rare variant effects in sequencing association studies

(2012) S. Lee et al.   BIOSTATISTICS

Complement factor H binds malondialdehyde epitopes and protects from oxidative stress

(2011) David Weismann et al.   NATURE

Risk Alleles in CFH and ARMS2 Are Independently Associated with Systemic Complement Activation in Age-related Macular Degeneration

(2011) Dzenita Smailhodzic et al.   OPHTHALMOLOGY

A 32 kb Critical Region Excluding Y402H in CFH Mediates Risk for Age-Related Macular Degeneration

(2011) Theru A. Sivakumaran et al.   PLoS One

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

(2010) Lars G. Fritsche et al.   HUMAN MOLECULAR GENETICS

Impaired Binding of the Age-related Macular Degeneration-associated Complement Factor H 402H Allotype to Bruch's Membrane in Human Retina

(2010) Simon J. Clark et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2010) Soumya Raychaudhuri et al.   NATURE GENETICS

Systemic Complement Activation in Age-Related Macular Degeneration

(2008) Hendrik P. N. Scholl et al.   PLoS One