Table 2. Correlations between genotype and incidence of nephropathy in 247 MYH9-RD patients.
| N. of patients (families) | Affected patients, % | Mean age at onset, years (SD) | Rate per 100 person year (95% CI) | p values | |
|---|---|---|---|---|---|
| NMMHC-IIA domain | |||||
| Head | 45 (33) | 26 (58%) | 20 (10) | 2.73 (1.63-4.41) | p<0.001 |
| Tail | 202 (85) | 35 (17%) | 32 (15) | 0.52 (0.33-0.86) | |
| NMMHC-IIA region | p<0.001 | ||||
| SH3/MD interface | 14 (9) | 2 (14%) | 35 (1) | 0.52 (0.10-4.02) | |
| SH1 helix (R702) | 30 (23) | 23 (77%) | 19 (10) | 4.35 (3.29-5.65) | p<0.001 vs. all other groups 1 |
| Coiled-coil | 123 (53) | 31 (25%) | 31 (15) | 0.75 (0.47-1.27) | |
| NHT | 69 (27) | 3 (4%) | 37 (21) | 0.12 (0.02-1.72) | p<0.001 vs. coiled-coil, p<0.05 vs. SH3/MD interface 1 |
| NMMHC-IIA residue | p<0.001 | ||||
| R 702 | 30 (23) | 23 (77%) | 19 (10) | 4.35 (3.29-5.65) | p<0.001 vs. all other groups 2 |
| R 1165 | 21 (10) | 4 (19%) | 21 (7) | 0.57 (0.08-1.10) | |
| D 1424 | 51 (20) | 18 (35%) | 32 (14) | 1.18 (0.67-2.31) | p=0.01 vs. E1841 2 |
| E 1841 | 33 (14) | 6 (18%) | 37 (17) | 0.46 (0.20-1.30) | |
| R 1933 | 45 (20) | 1 (2%) | 60 (ne) | 0.06 (0.02-0.07) | p<0.001 vs. D1424, p=0.01 vs. R1165, p<0.05 vs. E1841 2 |
| R702 substitutions | |||||
| p.R702C | 18 (9) | 16 (89%) | 16 (8) | 5.74 (4.40-7.42) | p=0.05 2 |
| p.R702H | 11 (8) | 6 (55%) | 21 (8) | 3.08 (1.92-4.72) | |
| D1424 substitutions | |||||
| p.D1424H | 33 (16) | 16 (48) | 31 (14) | 1.74 (0.90-3.43) | p=0.005 2 |
| p.D1424N | 13 (6) | 0 (0) | ne | 0 |
Notes: only p values ≤ 0.05 are reported.
1
= p ≤ 0.008 significance after Bonferroni correction.
2
= p ≤ 0.005 significance after Bonferroni correction.
Abbreviations: ne = not evaluable.