Table 2.

Number and frequency (%) of patients with post diarrheal HUS, and of French controls and European individuals included in the 1000 Genomes Project database, who carried rare variants in the six tested complement genes, or anti-factor H antibodies

Complement AbnormalitiesPostdiarrheal HUS, Total Cohort, n=108aFrench Controls, n=801000 Genomes Controls, n=503Postdiarrheal HUS versus French ControlsPostdiarrheal HUS versus 1000 Genomes ControlsStx-Positive HUS, n=75bStx-Negative HUS, n=33bStx-Positive versus Stx-Negative HUS
n (%)n (%)n (%)OR; 95% CI; P-ValuecOR; 95% CI; P-Valuecn (%)n (%)OR; 95% CI; P-Valuec
One rare variant per patient or control
Complement factor H3 (3)2 (3)8 (2)1.1; 0.2 to 6.8; >0.991.8; 0.5 to 6.8; 0.42 (3)1 (3)0.8; 0.1 to 10; >0.99
Membrane cofactor protein1 (0.9)02 (0.4)12.3; 0.2 to 26; 0.41 (1)01
Complement factor I1 (0.9)2 (3)13 (3)0.3; 0 to 4; 0.50.3; 0.1 to 3; 0.41 (1)01
C38d (7)4 (5)16 (3)1.5; 0 to 5; 0.52.4; 1 to 6; 0.055 (7)3 (9)0.7; 0.1 to 3; 0.7
Complement factor B1 (0.9)07 (1)10.6; 0.8 to 5; >0.991 (1)01
Thrombomodulin3 (3)1 (1)9 (2)2.2; 0.2 to 22; 0.61.6; 0.4 to 6; 0.42 (3)1 (3)0.8; 0.1 to 10; >0.99
Two rare variants per patient or control1e (0.9)2f (3)5 (1)0.4; 0 to 4; 0.50.9; 0.1 to 8; >0.9901 (3)0.1; 0 to 3.6; 0.3
Total18 (17)11 (14)60 (12)1.2; 0.5 to 3; 0.61.5; 0.8 to 3; 0.112 (16)6 (18)0.8; 0.3 to 2.5; 0.8
Anti-factor H antibodies3d (3)00.3120.2; 0 to 2.4; 0.2
  • HUS, hemolytic uremic syndrome; Stx, Shiga toxin; OR, odds ratio; 95% CI, 95% confidence interval.

  • a Five of the 113 patients with HUS were not screened for variants in the six tested complement genes.

  • b Four of the 79 patients with Stx-positive HUS and one of the 34 patients with Stx-negative HUS were not screened for variants in the six complement genes.

  • c P with Fisher exact test.

  • d One patient had a C3 rare variant and anti-Factor H antibodies.

  • e This patient had a complement factor H and a C3 rare variant.

  • f One control had a thrombomodulin and C3 rare variant, and another control had two rare variants in C3.