Table 2.

Independent effects of the APOL1 G1 and G2 risk alleles

Risk AlleleStratumNumber Case/Control1 vs. 0 Risk Allele2 vs. 0 Risk Alleles2 vs. 1 Risk AllelesRecessive Model 2 vs. 1 or 0 Risk Alleles
OR (CI)POR (CI)POR (CI)POR (CI)P
HIV-associated collapsing glomerulopathy (n = 54) and hyper-normal controls (n = 237)
    G1No G227/1801.9 (0.5, 8)0.3747.4 (11.9, 231.5)4.9 × 10−1124.3 (6.6, 105.4)2.2 × 10−835.2 (10.7, 132.6)2.3 × 10−11
    G2No G111/1501.4 (0.2, 7.5)0.7014.4 (1.7, 116.3)0.00710.1 (1.02, 105.9)0.0213.1 (1.7, 93.7)0.007
    G1/G2G1/G2b26/11344.9 (12.9, 192.1)2.2 × 10−13
    G1 or G2All54/2371.8 (0.5, 6.8)0.4240.4 (13.7, 148.4)4.10 × 10−1823.2 (9.5, 61.6)1.4 × 10−1629.2 (13.1, 68.5)6 × 10−22
African American idiopathic FSGS cases (n = 217) and controls (n = 383)
    G1No G2125/2861.9 (1, 3.5)0.0523.2 (12, 46.7)7.3 × 10−2911.6 (6.0, 23.2)4.7 × 10−1717.4 (9.8, 31.7)4.3 × 10−30
    G2No G156/2341.0 (0.4, 2.3)1.025.1 (8.8, 83.3)7.8 × 10−1317.0 (5.1, 65.4)8.5 × 10−825.3 (9.2, 81.7)1.4 × 10−13
    G1/G2G1/G282/18616.7 (8.5, 34)7.3 × 10−21
    G1 or G2All217/3831.4 (0.8–2.6)0.2620.6 (11.8–37)6.7 × 10−3814.6 (8.7, 25.1)6.4 × 10−2316.9 (11–26.5)1.3 × 10−48
  • The APOL1 risk alleles are referred to as follows: G1, S342G mutation; G2, 6 bp deletion (N388del:Y389del). Stratum refers to analysis that included a subset of genotypes (e.g., all cases and controls that lacked the G2 allele or G1 allele). The strata do not add to the total due to overlap between strata. G1/G2 compound heterozygotes were compared to subjects lacking both G1 and G2 alleles. P values were determined by Fisher exact test. As shown, the data best fit a recessive mode of inheritance, with marginal evidence for a dominant effect of the G1 allele in idiopathic FSGS.