Table 4.

Number and frequency (%) of patients with postdiarrheal HUS and of French controls and controls from the 1000 Genomes Project database, who carried at least one rare variant in one of the six tested complement genes

Postdiarrheal HUS, Total Cohort, n=108aFrench Controls, n=80b1000 Genomes Controls, n=503bPatients with HUS versus French ControlsPatients with HUS versus 1000 Genomes ControlsStx-Positive HUS, n=75c,dStx-Negative HUS, n=33c,eStx-Positive versus Stx-Negative HUSStx-Positive HUS versus 1000 Genomes Controls
n (%)n (%)n (%)OR; 95% CI; P-ValuefOR; 95% CI; P-Valuefn (%)n (%)OR; 95% CI; P-ValuefOR; 95% CI; P-Valuef
Individuals with a variant with MAF <1%18 (17)11 (14)60 (12)1.2; 0.5 to 3; 0.71.4; 0.8 to 2.6; 0.212 (16)6 (18.2)0.8; 0.3 to 2.5; 0.71.4; 0.7 to 2.9; 0.34
Individuals with at least a pathogenic variant with MAF <1%6g (6)2h (2)14 (3)3; 0.4 to 12; 0.52; 0.8 to 5; 0.14 (5.3)2i (6.1)0.9; 0.2 to 5; >0.991.9; 0.6 to 6; 0.3
Individuals with a VUS with MAF <1%12 (11)9h (11)46 (9)0.9; 0.4 to 2; >0.991.2; 0.6 to 2; 0.38 (10.7)4 (12.1)0.9; 0.2 to 3; >0.991.2; 0.5 to 3; 0.6
Individuals with a pathogenic variant with MAF <0.1%4 (4)0 (0)4 (0.8)0.174.8; 1.2 to 19; 0.043 (4)1 (3)1.3; 0.1 to 13; >0.995.2; 1.1 to 24; 0.03
  • HUS, hemolytic uremic syndrome; Stx, Shiga toxin; OR, odds ratio; 95% CI, 95% confidence interval; VUS, variant of uncertain significance.

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

  • b All controls were screened for variants in the six tested complement genes.

  • c 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.

  • d Frequency of pathogenic variants with MAF <0.1% in Stx positive-HUS patients versus French controls: P=0.17.

  • e Frequency of pathogenic variants with MAF <0.1% in Stx negative-HUS patients versus French controls: P=0.2; versus 1000 Genomes controls: OR, 3.9; 95% CI, 0.4 to 36; P=0.2.

  • f P with Fisher exact test.

  • g One of the six patients also carried a C3 VUS.

  • h One control had a thrombomodulin pathogenic variant and a C3 VUS, and another control had two C3 VUS.

  • i One of the two patients also carried a C3 VUS.