Table 3.
Association of NPHS2 V260E restricted to the subset of black children with SR-FSGS
| Discovery cohort | |||
|---|---|---|---|
| NPHS2 genotype | Controls | SR-FSGS | OR (95% CI), PFET |
| p. 260 V/V | 54 (98%) | 16 (67%) | Reference |
| p. 260 E/V | 1 (2%) | 0 | Not significant |
| p. 260 E/E | 0 | 8 (33%) | ∞ (4.9−∞) 3 × 10−5 |
| Replication cohort | |||
| p. 260 V/V | 18 (100%) | 12 (67%) | Reference |
| p. 260 V/E | 0 | 0 | − |
| p. 260 E/E | 0 | 6 (33%) | ∞ (1.4−∞) 0.02 |
| Combined cohorts (n=42) | |||
| p. 260 V/V | 72 (99%) | 28 (67%) | Reference |
| p. 260 V/E | 1 (0.7%) | 0 | Not significant |
| p. 260 E/E | 0 | 14 (33%) | ∞ (7.7−∞) 2 × 10−7 |
CI, confidence interval; FET, Fisher exact test; OR, odds ratio; SR-FSGS, steroid-resistant focal segmental glomerulosclerosis.
NPHS2 genotypes are summarized for individuals with SR-FSGS and controls. NPHS2 sequencing results were available for 42 FSGS patients and 73 controls. NPHS2 260 E/E were compared to NPHS2 260V/V.