No evidence of association between complement factor I genetic variant rs10033900 and age-related macular degeneration

In 2008, an association between age-related macular degeneration (AMD) and single nucleotide polymorphisms (SNPs) on chromosome 4q25 was reported in this journal by Fagerness et al1 studying a large US-based sample of around 1200 cases with advanced AMD and 800 controls. The association signal extended over a region of about 175 kb, the most associated variant (P<10−7) being the SNP rs10033900 near the complement factor I (CFI) gene. Two replication studies2, 3 published also in this journal provided some additional support for an AMD susceptibility locus in this region. In the course of candidate gene studies of AMD, we had previously investigated SNPs spanning CFI including rs10033900 in a UK case–control sample, which shows the expected associations with the well-established AMD-susceptibility loci CFH, ARMS2, CFB and C3. No evidence of association with the CFI variants was observed. Following publication of the reports cited above we have typed rs10033900 in additional cases and controls in two independent samples from England and Scotland to investigate this further.