Format

Send to:

Choose Destination
See comment in PubMed Commons below
Am J Hum Genet. 2000 Aug;67(2):487-91. Epub 2000 Jul 3.

Further evidence for an association of ABCR alleles with age-related macular degeneration. The International ABCR Screening Consortium.

Author information

  • 1Departments of Ophthalmology and Pathology, Columbia University, New York, NY, 10032, USA. rla22@columbia.edu

Abstract

Age-related macular degeneration (AMD) accounts for >50% of the registered visual disability among North American and Western European populations and has been associated both with environmental factors, such as smoking, and with genetic factors. Previously we have reported disease-associated variants in the ABCR (also called ABCA4) gene in a subset of patients affected with this complex disorder. We have now tested our original hypothesis, that ABCR is a dominant susceptibility locus for AMD, by screening 1,218 unrelated AMD patients of North American and Western European origin and 1,258 comparison individuals from 15 centers in North America and Europe for the two most frequent AMD-associated variants found in ABCR. These two sequence changes, G1961E and D2177N, were found in one allele of ABCR in 40 patients ( approximately 3.4%), and in 13 control subjects ( approximately 0.95%). Fisher's two-sided exact test confirmed that these two variants are associated with AMD at a statistically significant level (P<.0001). The risk of AMD is elevated approximately threefold in D2177N carriers and approximately fivefold in G1961E carriers. The identification of a gene that confers risk of AMD is an important step in unraveling this complex disorder.

PMID:
10880298
[PubMed - indexed for MEDLINE]
PMCID:
PMC1287193
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Icon for PubMed Central
    Loading ...
    Write to the Help Desk