Rare genetic variants in the CFI gene are associated with advanced age-related macular degeneration and commonly result in reduced serum factor I levels.

PubWeight™: 0.95‹?› | Rank: Top 15%

🔗 View Article (PMC 4459386)

Published in Hum Mol Genet on March 18, 2015

Authors

David Kavanagh1, Yi Yu2, Elizabeth C Schramm3, Michael Triebwasser3, Erin K Wagner2, Soumya Raychaudhuri4, Mark J Daly5, John P Atkinson3, Johanna M Seddon6

Author Affiliations

1: Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK.
2: Ophthalmic Epidemiology and Genetics Service, New England Eye Center, Tufts Medical Center, Boston, MA, USA.
3: Division of Rheumatology, Department of Medicine, Washington University School of Medicine, St. Louis, MO, USA.
4: Partners HealthCare Center for Personalized Genetic Medicine, Boston, MA, USA, Program in Medical and Population Genetics, Broad Institute, Cambridge, MA, USA, Division of Genetics, Rheumatology, Immunology and Allergy, Brigham and Women's Hospital, Boston, MA, USA, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK.
5: Partners HealthCare Center for Personalized Genetic Medicine, Boston, MA, USA, Program in Medical and Population Genetics, Broad Institute, Cambridge, MA, USA, Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
6: Ophthalmic Epidemiology and Genetics Service, New England Eye Center, Tufts Medical Center, Boston, MA, USA, Department of Ophthalmology, Tufts University School of Medicine, Boston, MA, USA and Sackler School of Graduate Biomedical Sciences, Tufts University, Boston, MA, USA jseddon@tuftsmedicalcenter.org.

Articles cited by this

PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet (2007) 209.92

A method and server for predicting damaging missense mutations. Nat Methods (2010) 78.53

Prevalence of age-related macular degeneration in the United States. Arch Ophthalmol (2004) 18.86

Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration. Nat Genet (2006) 7.49

Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome. Blood (2006) 4.51

Variation in complement factor 3 is associated with risk of age-related macular degeneration. Nat Genet (2007) 4.23

Uncontrolled C3 activation causes membranoproliferative glomerulonephritis in mice deficient in complement factor H. Nat Genet (2002) 4.22

Age-related macular degeneration. Lancet (2012) 4.17

Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype. Clin J Am Soc Nephrol (2010) 3.82

Seven new loci associated with age-related macular degeneration. Nat Genet (2013) 3.81

A rare penetrant mutation in CFH confers high risk of age-related macular degeneration. Nat Genet (2011) 3.55

Variation near complement factor I is associated with risk of advanced AMD. Eur J Hum Genet (2008) 3.29

A genomewide scan for age-related macular degeneration provides evidence for linkage to several chromosomal regions. Am J Hum Genet (2003) 3.23

The US twin study of age-related macular degeneration: relative roles of genetic and environmental influences. Arch Ophthalmol (2005) 2.83

Evaluation of the clinical age-related maculopathy staging system. Ophthalmology (2006) 2.63

Spontaneous hemolytic uremic syndrome triggered by complement factor H lacking surface recognition domains. J Exp Med (2007) 2.55

Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome. J Med Genet (2004) 2.55

Genetics and outcome of atypical hemolytic uremic syndrome: a nationwide French series comparing children and adults. Clin J Am Soc Nephrol (2013) 2.47

Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. Hum Mutat (2010) 2.44

Dietary fat and risk for advanced age-related macular degeneration. Arch Ophthalmol (2001) 2.27

Progression of age-related macular degeneration: association with body mass index, waist circumference, and waist-hip ratio. Arch Ophthalmol (2003) 2.20

Immunology of age-related macular degeneration. Nat Rev Immunol (2013) 2.14

Factor I is required for the development of membranoproliferative glomerulonephritis in factor H-deficient mice. J Clin Invest (2008) 1.94

The influence of C3b inactivator (KAF) concentration on the ability of serum to support complement activation. Clin Exp Immunol (1975) 1.93

Plasma complement components and activation fragments: associations with age-related macular degeneration genotypes and phenotypes. Invest Ophthalmol Vis Sci (2009) 1.86

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration. Nat Genet (2013) 1.77

The binding of factor H to a complex of physiological polyanions and C3b on cells is impaired in atypical hemolytic uremic syndrome. J Immunol (2009) 1.70

Risk models for progression to advanced age-related macular degeneration using demographic, environmental, genetic, and ocular factors. Ophthalmology (2011) 1.61

Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype. J Am Soc Nephrol (2013) 1.59

Atypical hemolytic uremic syndrome. Semin Nephrol (2013) 1.56

Mutations in components of complement influence the outcome of Factor I-associated atypical hemolytic uremic syndrome. Kidney Int (2009) 1.55

The amplification loop of the complement pathways. Adv Immunol (2009) 1.46

Characterization of mutations in complement factor I (CFI) associated with hemolytic uremic syndrome. Mol Immunol (2007) 1.42

A functional variant in the CFI gene confers a high risk of age-related macular degeneration. Nat Genet (2013) 1.29

Genetic disorders in complement (regulating) genes in patients with atypical haemolytic uraemic syndrome (aHUS). Nephrol Dial Transplant (2010) 1.24

Support for the involvement of complement factor I in age-related macular degeneration. Eur J Hum Genet (2010) 1.20

Complement mutation-associated de novo thrombotic microangiopathy following kidney transplantation. Am J Transplant (2008) 1.17

A mutation in factor I that is associated with atypical hemolytic uremic syndrome does not affect the function of factor I in complement regulation. Mol Immunol (2006) 1.15

Complement therapy in atypical haemolytic uraemic syndrome (aHUS). Mol Immunol (2013) 1.14

Complement factor I in health and disease. Mol Immunol (2011) 1.10

Nature and nurture- genes and environment- predict onset and progression of macular degeneration. Prog Retin Eye Res (2013) 1.08

The complotype: dictating risk for inflammation and infection. Trends Immunol (2012) 1.03

Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration. Hum Mol Genet (2014) 1.00

Epidemiological approach to identifying genetic predispositions for atypical hemolytic uremic syndrome. Ann Hum Genet (2010) 0.97

Eculizumab therapy in a child with hemolytic uremic syndrome and CFI mutation. Pediatr Nephrol (2012) 0.96

Mutations in complement factor I as found in atypical hemolytic uremic syndrome lead to either altered secretion or altered function of factor I. Eur J Immunol (2010) 0.95

Ontogeny of complement regulatory proteins - concentrations of factor h, factor I, c4b-binding protein, properdin and vitronectin in healthy children of different ages and in adults. Scand J Immunol (2003) 0.94

In vitro biosynthesis of complement factor I by human endothelial cells. Eur J Immunol (1992) 0.92

Complotype affects the extent of down-regulation by Factor I of the C3b feedback cycle in vitro. Clin Exp Immunol (2015) 0.90

Transcriptional and post-transcriptional regulation of complement factor I (CFI) gene expression in Hep G2 cells by interleukin-6. Biochim Biophys Acta (1998) 0.89

Human keratinocytes produce the complement inhibitor factor I: Synthesis is regulated by interferon-gamma. Mol Immunol (2007) 0.83

Complement factor I and age-related macular degeneration. Mol Vis (2014) 0.79