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A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration.
- G. Hageman, Don H. Anderson, R. Allikmets
- Biology, MedicineProceedings of the National Academy of Sciences…
- 17 May 2005
It is shown that factor H (HF1), the major inhibitor of the alternative complement pathway, accumulates within drusen and is synthesized by the retinal pigmented epithelium, implicating HF1 function in the pathogenetic mechanisms underlying AMD.
An Integrated Hypothesis That Considers Drusen as Biomarkers of Immune-Mediated Processes at the RPE-Bruch's Membrane Interface in Aging and Age-Related Macular Degeneration
Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration
Combined analysis of the C2 and BF haplotypes and CFH variants shows that variation in the two loci can predict the clinical outcome in 74% of the affected individuals and 56% ofThe controls, expanding and refine the understanding of the genetic risk for AMD.
A role for local inflammation in the formation of drusen in the aging eye.
The pivotal role of the complement system in aging and age-related macular degeneration: Hypothesis re-visited
Drusen associated with aging and age‐related macular degeneration contain proteins common to extracellular deposits associated with atherosclerosis, elastosis, amyloidosis, and dense deposit disease
- R. Mullins, S. Russell, Don H. Anderson, G. Hageman
- Biology, MedicineFASEB journal : official publication of the…
- 1 May 2000
Drusen associated with aging and age‐related macular degeneration contain proteins common to extracellular deposits associated with atherosclerosis, elastosis, amyloidosis, and dense deposit disease.
Seven New Loci Associated with Age-Related Macular Degeneration
A collaborative genome-wide association study, including >17,100 advanced AMD cases and >60,000 controls of European and Asian ancestry, identifies 19 loci associated at P < 5 × 10−8, which show enrichment for genes involved in the regulation of complement activity, lipid metabolism, extracellular matrix remodeling and angiogenesis.
The role of inflammation in the pathogenesis of age-related macular degeneration.
Age‐related macular degeneration—emerging pathogenetic and therapeutic concepts
- K. Gehrs, Don H. Anderson, L. V. Johnson, G. Hageman
- Medicine, BiologyAnnals of medicine
- 1 January 2006
Recently, compelling evidence has emerged that the innate immune system and, more specifically, uncontrolled regulation of the complement alternative pathway plays a central role in the pathobiology of AMD.
Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F.
It is shown that protocadherins are essential for maintenance of normal retinal and cochlear function and are found in the linkage interval defined by the USH1F locus.