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Genetic variant may increase wet AMD risk

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A gene variant that may increase the risk of developing exudative age-related macular degeneration has been identified by researchers at Yale School of Medicine.

Josephine Hoh, PhD, and colleagues genotyped 581 white patients with AMD and 309 white control subjects. The researchers discovered that rs11200638, a single-nucleotide polymorphism (SNP) in the region of the gene HTRA1, conferred a 49.3% risk of developing AMD.

In a separate study, Dr. Hoh and colleagues at Yale and in Hong Kong performed genome mapping on a cohort of Chinese subjects. They found that the same SNP in the region of HTRA1 was associated with a tenfold increased risk of developing AMD.

"The marker we have identified is very much associated with AMD, but no one has ever pinpointed the clinical features of the gene. We need to conduct further analysis in order to understand the biological mechanisms," Dr. Hoh said in a press release from Yale.

Both studies are published in the November 10 issue of Science.