Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration

RH Guymer, E Héon, AJ Lotery, FL Munier… - Archives of …, 2001 - jamanetwork.com
Objectives To investigate the role of 2 specific alleles of the Stargardt disease gene (ABCA4)
in the pathogenesis of age-related macular degeneration (AMD). Secondary objectives were
to investigate differences in frequency of theG1961Eallele in selected ethnic groups as well
as to examine the segregation of bothG1961EandD2177Nalleles in 5 multiplex families with
AMD. Methods Five hundred forty-four patients with AMD and 689 controls were ascertained
from 3 continents. Blood samples from 62 normal individuals of Somalian ancestry were also …