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Article

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature genetics - 1 Nov 2013

Seddon Johanna M, Yu Yi, Miller Elizabeth C, Reynolds Robyn, Tan Perciliz L, Gowrisankar Sivakumar, Goldstein Jacqueline I, Triebwasser Michael, Anderson Holly E, Zerbib Jennyfer, Kavanagh David, Souied Eric, Katsanis Nicholas, Daly Mark J, Atkinson John P, Raychaudhuri Soumya

Abstract excerpt

To define the role of rare variants in advanced age-related macular degeneration (AMD) risk, we sequenced the exons of 681 genes within all reported AMD loci and related pathways in 2,493 cases and controls. We first tested each gene for increased or decreased burden of rare variants in cases compared to controls. We found that 7.8% of AMD cases compared to 2.3% of controls are carriers of rare missense CFI...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Complement Activation

Share to Complement C3

Share to Complement Factor I

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Share to Sequence Analysis, DNA

Source

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Identifiers

PMID: 24036952
DOI: 10.1038/ng.2741
PMCID: PMC3902040

Genes

CFI
CFH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

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Research trail→

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Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.PMID 24036952Read ↗

Rare Genetic Variants Associated With Development of Age-Related Macular Degeneration.Semantic proximity Read ↗

Identification of a rare coding variant in complement 3 associated with age-related macular degeneration.Semantic proximity Read ↗

The Functional Effect of Rare Variants in Complement Genes on C3b Degradation in Patients With Age-Related Macular Degeneration.Semantic proximity Read ↗

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

A functional variant in the CFI gene confers a high risk of age-related macular degeneration.Semantic proximity Read ↗

Protective coding variants in <i>CFH</i> and <i>PELI3</i> and a variant near <i>CTRB1</i> are associated with age-related macular degenerationSemantic proximity Read ↗

A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration.Semantic proximity Read ↗

Protective coding variants in CFH and PELI3 and a variant near CTRB1 are associated with age-related macular degeneration†.Semantic proximity Read ↗

Systematic Functional Testing of Rare Variants: Contributions of CFI to Age-Related Macular Degeneration.Semantic proximity Read ↗

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Whole genome sequencing of 4,787 individuals identifies gene-based rare variants in age-related macular degeneration.Semantic proximity Read ↗

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