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Wednesday 26th October 2016

Genes for sight defect found

7th March 2006

Research by a team at New York's Columbia University suggests that nearly three-quarters of cases of one of the world's most common causes of blindness, age-related macular degeneration (AMD) are linked to just two genes. AMD causes blindness in millions of older people across the globe. They hope their work could help aid the development of new treatments for the condition.

Previous work had shown that several variants of a gene called Factor H significantly increase the risk of AMD. The latest research focused not only on Factor H, but on other genes that play a role in the same immune response pathway. A genetic analysis of 1,300 people identified a second gene, Factor B, as playing a significant role. While Factor H is an inhibitor of the immune response to infection, Factor B is an activator.

Because of the complementary roles of the these two genes, a protective Factor B variation can protect against AMD, even if one carries a risk-increasing variant of Factor H, and vice versa.

The researchers are now searching for the specific triggers that set off the immune response, and subsequent inflammation.


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