Table 2.
Analysis by genetic models in cases (ADPKD) and controls (adjusted by age and sex)
| Group 1: ADPKD patients (n=123) | Group 2: Advanced CKD stage (n=69) | Group 3: Early CKD stage (n=54) | Group 4: Controls (n=100) | Group 1 vs Group 4 | Group 2 vs Group 4 | Group 3 vs Group 4 | Group 2 vs Group 3 | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| rs699947 (-2578C>A) |
Genotype | Frequency (%) |
frequency (%) | frequency (%) | frequency (%) | OR | p-value | OR | p-value | OR | p-value | OR | p-value |
| (95%CI) | (95%CI) | (95%CI) | (95%CI) | ||||||||||
| Codominant | C/C | 38 (30.9) | 19 (27.5) | 19 (35.2) | 37 (37.0) | 1 (Ref) | 1 | 1 | 1 | ||||
| C/A | 77 (62.6) | 45 (65.2) | 32 (59.3) | 44 (44.0) | 0.49 | 0.0015* | 0.23 | <0.001* | 0.73 | 0.072 | 0.60 | 0.52 | |
| (0.25-0.93) | (0.09-0.59) | (0.33-1.57) | (0.25-1.45) | ||||||||||
| A/A | 8 (6.5) | 5 (7.3) | 3 (5.6) | 19 (19.0) | 2.42 | 0.51 | 3.13 | 0.61 | |||||
| (0.87-6.74) | (0.17-1.58) | (0.76-12.88) | (0.11-3.26) | ||||||||||
| Dominant | CC | 38 (30.9) | 19 (27.5) | 19 (35.2) | 37 (37.0) | 1 | 1 | 1 | 1 | ||||
| CA+AA | 85 (69.1) | 50 (40.7) | 35 (28.5) | 63 (63.0) | 0.66 | 0.18 | 0.36 | 0.015* | 0.94 | 0.87 | 0.60 | 0.25 | |
| (0.36-1.22) | (0.15-0.84) | (0.45-1.98) | (0.25-1.43) | ||||||||||
| Recessive | CC+CA | 115 (93.5) | 64 (92.7) | 51 (94.4) | 81 (81.0) | 1 | 1 | 1 | 1 | ||||
| AA | 8 (6.5) | 5 (7.3) | 3 (5.6) | 19 (19.0) | 3.73 | 0.0042 * | 3.63 | 0.026 * | 3.76 | 0.032 * | 0.86 | 0.85 | |
| (1.45-9.62) | (1.08-12.16) | (0.98-14.38) | (0.18-4.12) | ||||||||||
| Overdominant | CC+AA | 46 (37.4) | 24 (34.7) | 22 (40.7) | 56 (56.0) | 1 | 1 | 1 | 1 | ||||
| CA | 77 (62.6) | 45 (65.2) | 32 (59.3) | 44 (44.0) | 0.39 | 0.0015 * | 0.20 | <0.001* | 0.56 | 0.12 | 0.66 | 0.32 | |
| (0.21-0.70) | (0.09-0.48) | (0.27-1.17) | (0.29-1.50) | ||||||||||
| rs1570360 (-1154G>A) |
|||||||||||||
| Codominant | G/G | 53 (43.1) | 29 (42.0) | 24 (44.5) | 57 (57.0) | 1 (Ref) | 1 | 1 | 1 | ||||
| G/A | 59 (48.0) | 33 (47.8) | 26 (48.1) | 34 (34.0) | 0.51 | 0.089 | 0.39 | 0.059 | 0.57 | 0.34 | 0.87 | 0.89 | |
| (0.28-0.94) | (0.18-0.87) | (0.27-1.21) | (0.38-1.99) | ||||||||||
| A/A | 11 (8.9) | 7 (10.1) | 4 (7.4) | 9 (9.0) | 0.80 | 0.80 | 0.76 | 0.71 | |||||
| (0.27-2.35) | (0.19-3.31) | (0.20-2.92) | (0.16-3.26) | ||||||||||
| Dominant | GG | 53 (43.1) | 29 (42.0) | 24 (44.5) | 57 (57.0) | 1 | 1 | 1 | 1 | ||||
| GA+AA | 70 (56.9) | 40 (58.0) | 30 (55.5) | 43 (43.0) | 0.55 | 0.041* | 0.44 | 0.03 * | 0.60 | 0.16 | 0.85 | 0.68 | |
| (0.31-0.98) | (0.21-0.94) | (0.29-1.23) | (0.38-1.88) | ||||||||||
| R0ecessive | GG+GA | 112 (91.1) | 62 (89.9) | 50 (92.6) | 91 (91.0) | 1 | 1 | 1 | 1 | ||||
| AA | 11 (8.94) | 7 (10.1) | 4 (7.4) | 9 (9.0) | 1.09 | 0.87 | 1.23 | 0.77 | 0.97 | 0.97 | 0.77 | 0.72 | |
| (0.39-3.80) | (0.32-4.77) | (0.27-3.56) | (0.18-3.29) | ||||||||||
| Overdominant | GG+AA | 64 (52.0) | 36 (52.2) | 28 (51.9) | 66 (66.0) | 1 | 1 | 1 | 1 | ||||
| GA | 59 (47.9) | 33 (47.8) | 26 (48.1) | 34 (34.0) | 0.53 | 0.031* | 0.41 | 0.018 * | 0.59 | 0.16 | 0.92 | 0.83 | |
| (0.29-0.95) | (0.19-0.87) | (0.29-1.22) | (0.42-2.03) | ||||||||||
OR: odds ratio; CI: confidence interval;
*
statistically significant