Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Human molecular genetics - 1 Jul 2015

Kavanagh David, Yu Yi, Schramm Elizabeth C, Triebwasser Michael, Wagner Erin K, Raychaudhuri Soumya, Daly Mark J, Atkinson John P, Seddon Johanna M

Abstract excerpt

To assess a potential diagnostic and therapeutic biomarker for age-related macular degeneration (AMD), we sequenced the complement factor I gene (CFI) in 2266 individuals with AMD and 1400 without, identifying 231 individuals with rare genetic variants. We evaluated the functional impact by measuring circulating serum factor I (FI) protein levels in individuals with and without rare CFI variants. The burden of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Blood Coagulation and Thrombosis Mechanisms
Share to Complement Factor I

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Complement system in diseases

Share to Fibrinogen

Share to CFI gene

Share to Genetic Variation

Share to Macular Degeneration

Share to Retinal Diseases and Treatments

Source

Open in PubMed Open full text

Identifiers

PMID: 25788521
DOI: 10.1093/hmg/ddv091
PMCID: PMC4459386

Genes

CFI

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Rare genetic variants in the CFI gene are associated with advanced age-related macular degeneration and commonly result in reduced serum factor I levels.PMID 25788521Read ↗

Rare Genetic Variants in Complement Factor I Lead to Low FI Plasma Levels Resulting in Increased Risk of Age-Related Macular Degeneration.Semantic proximity Read ↗

An assessment of prevalence of Type 1 CFI rare variants in European AMD, and why lack of broader genetic data hinders development of new treatments and healthcare access.Semantic proximity Read ↗

Rare Dysfunctional Complement Factor I Genetic Variants and Progression to Advanced Age-Related Macular DegenerationSemantic proximity Read ↗

Rare Dysfunctional Complement Factor I Genetic Variants and Progression to Advanced Age-Related Macular DegenerationSemantic proximity Read ↗

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

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

Rare Variants in the Functional Domains of Complement Factor H Are Associated With Age-Related Macular Degeneration.Semantic proximity Read ↗

Effect of rare coding variants in the CFI gene on Factor I expression levels.Semantic proximity Read ↗

Rare complement factor I variants associated with reduced macular thickness and age-related macular degeneration in the UK Biobank.Semantic proximity Read ↗

Evaluating a Causal Relationship between Complement Factor I Protein Level and Advanced Age-Related Macular Degeneration Using Mendelian RandomizationSemantic proximity Read ↗

Functional analysis of rare genetic variants in complement factor I in advanced 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 ↗

⌁Select a neighboring publication to make it the new centre.