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Polymorphisms in gene coding for VEGF receptor site may up AMD risk

Ophthalmology. 2010;117(9):1769-1774.

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Evidence from genotyping studies continues to suggest that genetics plays a strong role in the development of age-related macular degeneration.

According to a study that enrolled 226 patients with AMD and 248 controls, polymorphisms in the gene coding for VEGF-A and in the gene coding for the VEGF receptor KDR, either separately or jointly, significantly increase the odds of developing AMD.

In the VEGF-A gene, at site rs833069, a guanine substitution increased the risk of AMD fivefold compared with carriage of the adenine allele. At site rs2071559 of the KDR gene, thymine homozygotes carried a greater than threefold increased risk of AMD compared with homozygous carriage of the cytosine allele.

In individuals carrying both risk alleles, the risk of AMD was increased greater than sixfold compared with individuals carrying non-risk alleles, the study authors said.

Additionally, the particular site of the thymine substitution on the KDR gene is an area of known high transcription activity, a finding that further supports "the role of the VEGF pathway in the pathophysiology of AMD," the researchers noted.