The gene, complement C3, has been identified as playing an important role in the pathogenesis of age-related macular degeneration (AMD), according to a study published in the August issue of the New England Journal of Medicine.
John R.W. Yates and colleagues from the Genetic Factors in AMD Study Group, tested for an association between AMD and 13 single-nucleotide polymorphisms (SNPs) spanning the complement genes C3 and C5 in case subjects and control subjects from the South East region of England. Each subject was examined by an ophthalmologist and had independent grading of fundus photographs to confirm their disease status. To test for replication of the most significant findings, Scottish cases and controls were genotyped.
It was discovered that the common functional polymorphism rs2230199 in the C3 gene, corresponding to the electrophoretic variants C3S (slow) and C3F (fast), was strongly associated with AMD in both the English group (603 cases and 350 controls; p=5.9x10-5) and the Scottish group (244 cases and 251 controls; p=5.0x10-5).
It would appear, from these findings, that the complement C3 gene might play a role in the pathogenesis of AMD.