A University of Southampton research team, led by Professor Andrew Lotery, has identified a new genetic risk factor for age-related macular degeneration (AMD), a major cause of untreatable blindness in elderly people in developed countries.
AMD is a progressive disease affecting the retinal pigment in the macular region at the back of the eye. Building on their previous research, which showed that genes that control inflammation were important for developing AMD, the researchers took DNA samples from 478 people with AMD and from 555 people with no signs of the disease. They then looked for evidence of variations in genes controlling the production and suppression of cytokines - powerful chemicals involved in inflammatory processes in the body.
Their work paid off when they identified that one of the genetic variants (251A/T), which is associated with a gene that boosts the production of interleukin 8 (known as IL-8), was significantly more common among the patients with AMD. This held true even after taking account of age, sex, weight, and smoking, which is a known risk factor for AMD.
'This is exciting research which helps us understand why people develop AMD,' says Professor Lotery. 'In the future we may be able to target patients with this genetic risk factor for specific anti-inflammatory treatments, maybe with something as simple as aspirin! This knowledge should allow us to get much better treatment results.'
Professor Lotery's research has been supported by the University of Southampton and the Gift of Sight appeal. He adds: 'I would like to thank everyone who has made a donation to this very worthwhile cause.'
If repeated in larger studies, Professor Lotery and his colleagues suggest that their findings might lead to the possibility of genetic screening for AMD and the development of biological agents to control it.
The paper 'Interleukin-B promoter polymorphism - 251A/T is a risk factor for age-related macular degeneration' is published online, ahead of print, by the British Journal of Ophthalmology. Br J Ophthalmol 2008; doi: 10.1136/bjo.2007.123190
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