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The complement factor I (CFI) p.Gly119Arg mutation is more common in age-related macular degeneration (AMD) cases than previously thought, suggesting a high risk but lower penetrance. The p.Gly188Ala variant showed no difference between groups.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Immunology

Background:

  • The complement system plays a role in age-related macular degeneration (AMD) pathogenesis.
  • Complement factor I (CFI) regulates complement pathways.
  • Previous studies suggested a specific CFI mutation (p.Gly119Arg) confers high AMD risk.

Purpose of the Study:

  • To investigate the frequency and risk associated with CFI mutations p.Gly119Arg and p.Gly188Ala in Caucasian individuals over 55 with AMD.
  • To validate findings from prior multicenter studies on CFI mutations and AMD risk.

Main Methods:

  • Screening of 521 AMD cases and 627 controls for p.Gly119Arg and p.Gly188Ala variants using KASP™ SNP assays.
  • All participants were Caucasian, aged over 55, and underwent dilated fundal examination.
  • Recruitment through Southampton Eye Unit and Guernsey research clinics.

Main Results:

  • The p.Gly119Arg mutation was found in 7/521 AMD cases versus 1/627 controls (OR=8.47, p=0.027).
  • The mutation's phenotype varied, present in 1.6% of wet AMD and 1.1% of dry AMD cases.
  • No significant difference in p.Gly188Ala frequency was observed between cases and controls.

Conclusions:

  • The frequency of p.Gly119Arg heterozygosity in AMD cases and controls is higher than previously reported.
  • While supporting a high AMD risk for p.Gly119Arg, the mutation appears less rare and less penetrant than initially suggested.
  • The CFI p.Gly188Ala variant showed no association with AMD in this cohort.