Researchers Discover Gene Believed Responsible for Age-Related Macular Degeneration

03-14-2005: Researchers from Boston University School of Medicine (BUSM), University of Texas Southwestern Medical Center at Dallas (UT Southwestern), and SEQUENOM, Inc. report the discovery of a genetic variation that is the strongest known risk factor associated for age-related macular degeneration (AMD).

"Considering that AMD is such a common and complex condition with multiple risk factors, we did not expect that we would identify a gene that is responsible for almost half of the cases," said author Lindsay A. Farrer, PhD, chief of the genetics program at BUSM, and a professor of medicine, neurology, genetics and genomics, epidemiology and biostatistics at BUSM.

The biological basis of this disorder, which is the most common cause of blindness in the elderly, is unclear. However, it was strongly suspected that genetics did play a role. The researchers tested single nucleotide polymorphisms (SNPs) for association of AMD in a region of 14 million base pairs on chromosome 1q25-31 where a gene for AMD had been previously localized in families with multiple persons affected with AMD. Using two independent case-control populations, the researchers found that possession of at least one copy of histidine at position 402 of complement factor H (CFH) increased the risk of AMD almost three-fold.

"We are pleased to be part of this important collaboration with BU School of Medicine and UT Southwestern and that the use of our MassARRAY(R) System in this large-scale association study helped contribute to the discovery of the genetic variations associated with AMD," stated Charles Cantor, Ph.D. SEQUENOM's Chief Scientific Officer. "We recognize that the identified genetic targets may be suitable for molecular diagnostic purposes."

Original Publication: "Complement Factor H Polymorphism and Age-Related Macular Degeneration"; Science online 2005.