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Paul S. Bernstein, Mark Leppert, Nanda Singh, Michael Dean, Richard Alan Lewis, James R. Lupski, Rando Allikmets, Johanna M. Seddon; Genotype–Phenotype Analysis of ABCR Variants in Macular Degeneration Probands and Siblings. Invest. Ophthalmol. Vis. Sci. 2002;43(2):466-473.
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purpose. Single-copy variants of the autosomal recessive Stargardt
disease (STGD1) gene ABCR (ABCA4) have
been shown to confer enhanced susceptibility to age-related macular
degeneration (AMD). To investigate the role of ABCR alleles in AMD further, genotype–phenotype analysis was performed on
siblings of patients with AMD who had known ABCR variants. This genetically related population provides a cohort of
subjects with similar age and ethnic background for genotype–phenotype
comparison to the original probands.
methods. All available siblings of 26 probands carrying probable
disease-associated ABCR variants were examined
clinically. Blood samples were collected from these siblings for
genotype analysis to search for the ABCR variant alleles
corresponding to the isofamilial proband.
results. Nineteen of 33 siblings from 15 families carried the respective
proband’s variant ABCR allele. Some families exhibited
concordance of ABCR alleles with macular degeneration
phenotype, but others did not. Exudative AMD was uncommon among both
probands and siblings.
conclusions. Although population studies have indicated that some ABCR variant alleles may enhance susceptibility to AMD,
investigation of the extent of ABCR involvement by
kindred analysis is complicated by a plethora of environmental and
other hereditary factors not investigated in the current study that may
also play important roles.
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