Table 2.

Prevalence of patients with single and combined mutations in CFH, MCP, CFI, C3, and CFB in the four cohorts

Genetic AbnormalityCFHMCPCFIC3CFB
CFH158
MCP765
CFI4946
C321145
CFB00109
Triple-mutatedTwo patients
Combineda/single15/15819/65b,c17/46b,c4/451/9
Combineda/single + combined (%)8.7%22.6%27%8.2%10%
Single mutation/screened patients158/795 (19.9%)65/795d,e (8.2%)46/795d,e (5.8%)45/795d,e (5.7%)9/795d (1.1%)
Combined mutationsa/screened patients15/795c,f (1.9%)19/795c,e (2.4%)17/795c,f (2.1%)4/795 (0.5%)1/795 (0.1%)
  • The number and percentages of combined mutated patients cannot be added up because of subjects appearing in more than one cell. The two triple-mutated patients are included in the cell above. CFH mutations include the CFH/CFHR1 hybrid gene. Statistical analyses were performed by chi-squared or Fisher exact test as appropriate.

  • a Including double- and triple-mutated.

  • b P<0.001 versus CFH.

  • c P≤0.03 versus C3.

  • d P<0.001 versus CFH.

  • e P<0.001 versus CFB.

  • f P<0.001 versus CFB.