"We have shown that a variant, or polymorphism, of the complement factor H gene, which alters a protein whose normal function is to regulate the immune system's attack of foreign invaders and abnormal cells, is involved in the development of AMD," says senior co-author Jrg Ott, Ph.D., professor and head of the Laboratory of Statistical Genetics at Rockefeller. "We believe this polymorphism is a strong risk factor for the disease."
The gene variant, known as a single nucleotide polymorphism (SNP), derives from a single letter difference in the genetic sequence of DNA. Some of these differences may change a gene's protein products in ways that may confer susceptibility to -- or protection from -- diseases. In this case, the complement factor H (CFH) SNP associated with AMD encodes for a different amino acid, as histidine substitutes for tyrosine at a specific position. The CFH gene lies in a region of human chromosome 1 that had been linked previously to AMD through family studies by other researchers.
The research team was led by senior co-author Josephine Hoh, Ph.D., an assistant professor in the Division of Chronic Disease Epidemiology at Yale's School of Public Health. Before joining Yale in 2003, Hoh was a research assistant professor in Ott's lab.
For the research reported in Science Express, Hoh used DNA taken from blood samples collected for the National Eye Institute-sponsored Age-Related Eye Disease
Contact: Joseph Bonner