home   genetic news   bioinformatics   biotechnology   literature   journals   ethics   positions   events   sitemap
  HUM-MOLGEN -> Genetic News | search  

Genetic Susceptibility To Age-Related Macular Degeneration

  August, 31 2006 6:30
your information resource in human molecular genetics
The genetic factors influencing susceptibility to a degenerative eye disorder are explored in two papers in the September 2006 issue of Nature Genetics. The scientists report that multiple genetic variants together explain a high proportion of inherited individual disease risk.

Age-related macular degeneration - AMD - is a degenerative disorder of the eye affecting the central retina, which gradually reduces vision and is one of the most common causes of vision loss in the elderly. The risk of developing AMD increases with age, and is influenced by environmental as well as genetic components. Previous studies showed that a common, variant form of a protein called complement factor H (CFH) is associated with increased susceptibility to AMD. These new studies show that additional variants within the CFH gene, which do not affect the function of the protein, also make an important contribution to disease risk.

In one study, Gonçalo Abecasis and colleagues examined variants within and surrounding the CFH gene, in AMD patients and healthy individuals from a single study population. They find that variants in the gene encoding CFH, which do not change the protein itself, strongly contribute to the risk of AMD. They also show that multiple variants together define a high proportion of risk.

In an accompanying paper, Mark Daly and colleagues examine an independent set of AMD cases and similarly find that a common non-protein-coding variant in CFH influences disease risk. The authors also confirm previous associations between disease susceptibility and variation in two additional genes, and show that, together, the genetic variation in these three genes defines a broad spectrum of individual disease risk. It has been noted that siblings of individuals with AMD show a 3-6 fold higher incidence of disease compared to the general population. Daly and colleagues estimate that variation in the three genes they study explains roughly half of this increased risk seen among siblings.

Author contacts:

Gonçalo Abecasis (University of Michigan, Ann Arbor, MI, USA)
E-mail: goncalo@umich.edu

Mark Daly (Massachusetts General Hospital, Boston, MA, USA)
E-mail: mjdaly@chgr.mgh.harvard.edu

Abstracts available online:
Abecasis paper.
Daly paper.

(C) Nature Genetics press release.

Message posted by: Trevor M. D'Souza

print this article mail this article
Latest News
Variants Associated with Pediatric Allergic Disorder

Mutations in PHF6 Found in T-Cell Leukemia

Genetic Risk Variant for Urinary Bladder Cancer

Antibody Has Therapeutic Effect on Mice with ALS

Regulating P53 Activity in Cancer Cells

Anti-RNA Therapy Counters Breast Cancer Spread

Mitochondrial DNA Diversity

The Power of RNA Sequencing

‘Pro-Ageing' Therapy for Cancer?

Niche Genetics Influence Leukaemia

Molecular Biology: Clinical Promise for RNA Interference

Chemoprevention Cocktail for Colon Cancer

more news ...

Generated by News Editor 2.0 by Kai Garlipp
WWW: Kai Garlipp, Frank S. Zollmann.
7.0 © 1995-2023 HUM-MOLGEN. All rights reserved. Liability, Copyright and Imprint.