Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Complement factor H polymorphism p.Tyr402His and cuticular Drusen.

Michael A Grassi1, James C Folk, Todd E Scheetz

  • 1Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, USA.

Archives of Ophthalmology (Chicago, Ill. : 1960)
|January 11, 2007
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

MMP9 Genotype and Systemic T-Cell Subsets Correlate With Structural and Functional Outcomes in Neovascular Age-Related Macular Degeneration.

Investigative ophthalmology & visual science·2026
Same author

Cystoid Macular Edema in Retinitis Pigmentosa: Pathophysiologic Insight Using Swept-Source OCT and Angiography.

Ophthalmology science·2026
Same author

A Single-Center Analysis of Variables Used to Select a Vitreoretinal Surgery Training Program.

Journal of vitreoretinal diseases·2026
Same author

Single-Cell Gene Expression and eQTL Analyses in the Human Retina, RPE, and Choroid in Macular Degeneration.

bioRxiv : the preprint server for biology·2026
Same author

Metabolic Analysis of Human Retinal Pigment Epithelium and Choroid Tissue in Aging and Macular Degeneration.

bioRxiv : the preprint server for biology·2026
Same author

Acriflavine delivery via Polyurethane nanocapsules to treat neovascular age-related macular degeneration.

bioRxiv : the preprint server for biology·2026
Same journal

The economics of the initial preventive physical examination in medicare-reply.

Archives of ophthalmology (Chicago, Ill. : 1960)·2013
Same journal

Modification of silicone oil retention sutures in aphakic eyes with iris loss-reply;.

Archives of ophthalmology (Chicago, Ill. : 1960)·2013
Same journal

December 2011 archives web quiz winner.

Archives of ophthalmology (Chicago, Ill. : 1960)·2013
Same journal

Angle involvement and glaucoma in patients with biopsy-proven iris melanoma: a response-reply.

Archives of ophthalmology (Chicago, Ill. : 1960)·2013
Same journal

About this journal.

Archives of ophthalmology (Chicago, Ill. : 1960)·2013
Same journal

In memoriam: goodwin m. Breinin, MD (1918-2011).

Archives of ophthalmology (Chicago, Ill. : 1960)·2013
See all related articles

The Tyr402His variant in the complement factor H (CFH) gene is strongly linked to the cuticular drusen phenotype of age-related macular degeneration (AMD). This finding suggests a significant role for the complement cascade in this specific AMD subtype.

Area of Science:

  • Genetics and Ophthalmology
  • Molecular Biology and Disease Mechanisms

Background:

  • Age-related macular degeneration (AMD) is a leading cause of vision loss.
  • The cuticular drusen phenotype is a specific subtype of AMD.
  • Genetic factors, including variants in the complement factor H (CFH) gene, are implicated in AMD pathogenesis.

Purpose of the Study:

  • To investigate the frequency of the histidine allele (a variant of the CFH gene) in patients with the cuticular drusen phenotype of AMD.
  • To compare this frequency with that in typical AMD cases and healthy controls.

Main Methods:

  • Genotyping of DNA samples from 50 individuals with the cuticular drusen phenotype using a polymerase chain reaction-based restriction digest assay.
  • Comparison with 700 individuals with typical AMD and 252 controls.

Related Experiment Videos

  • Statistical analysis using Fisher exact test to determine allele frequency differences.

    • Main Results:

    • The histidine allele frequency was significantly higher in the cuticular drusen cohort (70%) compared to typical AMD cases (55%) and controls (34%).
    • A strong association was found between the cuticular drusen phenotype and the histidine allele (P = .003 vs AMD; P<.001 vs controls).
    • Genotype distribution also showed significant differences across the three groups (P<.001).

    Conclusions:

    • The cuticular drusen phenotype is strongly associated with the Tyr402His variant of the CFH gene.
    • The elevated histidine allele frequency in cuticular drusen suggests a more prominent role for the complement cascade in this AMD subtype.
    • The c.1204T>C, p.Tyr402His variant confers a 3-fold increased risk for AMD and is also linked to membranoproliferative glomerulonephritis type II.