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To assess a potential diagnostic and therapeutic biomarker for age-related macular degeneration (AMD), we sequenced the complement factor I gene ( CFI ) in 2266 individuals with AMD and 1400 without, identifying 231 individuals with rare genetic variants. We evaluated the functional impact by measuring circulating serum factor I (FI) protein levels in individuals with and without rare  CFI  variants. The burden of very rare (frequency &lt;1/1000) variants in  CFI  was strongly associated with disease ( P  = 1.1 × 10 −8 ). In addition, we examined eight coding variants with counts ≥5 and saw evidence for association with AMD in three variants. Individuals with advanced AMD carrying a rare  CFI  variant had lower mean FI compared with non-AMD subjects carrying a variant ( P  &lt; 0.001). Further new evidence that FI levels drive AMD risk comes from analyses showing individuals with a  CFI  rare variant and low FI were more likely to have advanced AMD ( P  = 5.6 × 10 −5 ). Controlling for covariates, low FI increased the risk of advanced AMD among those with a variant compared with individuals without advanced AMD with a rare  CFI  variant (OR 13.6,  P  = 1.6 × 10 −4 ), and also compared with control individuals without a rare  CFI  variant (OR 19.0,  P  = 1.1 × 10 −5 ). Thus, low FI levels are strongly associated with rare  CFI  variants and AMD. Enhancing FI activity may be therapeutic and measuring FI provides a screening tool for identifying patients who are most likely to benefit from complement inhibitory therapy.

human molecular genetics

Rare genetic variants in the  CFI  gene are associated with advanced age-related macular degeneration and commonly result in reduced serum factor I levels