Table 7. Haplotype association analyses in BRIGHT.
| Haplotype | Controla | Casea | Fa | EH | SBP | DBP | 24 hr Urine potassiumd | ||||
| COMMONa | OR (95%CI)b | p-valuec | Effect (95%CI)b | p-valuec | Effect (95%CI)b | p-valuec | Effect (95%CI)b | p-valuec | |||
| 1 | 477.5 | 513.9 | 0.15 | reference | - | - | - | - | - | - | - |
| 2 | 405.6 | 451.9 | 0.13 | 1.0(0.8,1.2) | 0.8 | 1.7(−0.1,3.4) | 0.06 | 0.9(−0.1,1.9) | 0.09 | 5.4(2.6,8.3) | 9.8×10−5 |
| 3 | 368.3 | 451.1 | 0.12 | 1.1(0.9,1.4) | 0.2 | 2.1(0.3,3.9) | 0.02 | 1.2(0.2,2.2) | 0.02 | 7.1(4.2,10.1) | 5.7×10−7 |
| 4 | 407.9 | 400.9 | 0.12 | 0.9(0.7,1.1) | 0.4 | −0.9(−2.7,,0.8) | 0.3 | −0.8(−1.8,0.2) | 0.1 | 6.1(3.2,9.1) | 2.7×10−5 |
| 5 | 307.3 | 406.0 | 0.10 | 1.1(0.9,1.4) | 0.2 | 2.4(0.5,4.2) | 0.01 | 1.2(0.2,2.3) | 0.02 | −0.0(−2.8,2.8) | 0.98 |
| 6 | 193.1 | 205.3 | 0.06 | 1.0(0.8,1.3) | 0.9 | −1.3(−3.4,0.9) | 0.2 | 0(−1.2,1.3) | 0.9 | 6.2(2.6,9.9) | 4.7×10−4 |
| 7 | 188.7 | 194.7 | 0.06 | 1.0(0.8,1.3) | 0.9 | −0.5(−2.7,1.8) | 0.7 | 0.3(−1.0,1.6) | 0.7 | 9.1(5.3,13.1) | 1.0×10−6 |
| 8 | 163.3 | 195.2 | 0.05 | 1.0(0.8,1.4) | 0.7 | 2.5(0.1,4.9) | 0.04 | 1.5(0.2,2.9) | 0.03 | 3.4(−0.2,7.3) | 0.07 |
| Low frequency pool | 874.3 | 562.6 | 0.21 | 0.6(0.5,0.7) | 4.8×10−8 | −4.0(−5.5,−2.5) | 2.1×10−7 | −2.3(−3.1,−1.4) | 2.8×10−7 | 5.8(3.1,8.6) | 1.89×10−5 |
Haplotypes are numbered with reference to Table 4. Low frequency haplotypes are numbered with reference to Table 4 and Supplementary Table 1. Haplotype counts in cases and controls are estimates weighted by their posterior probabilities as determined by haplostats. F: Frequency.
Linear effect estimate, 95% confidence intervals for EH, SBP, DBP and 24 hour urine potassium. The effect sizes are calculated by comparing each haplotype against haplotype 1: the most common haplotype or wild-type.
Global p-value based on 10,000 permutations for 24 hour urine K+ and 10,000,000 for EH and SBP/DBP - adjusting for testing multiple haplotypes.
Association with 24 hour urine potassium excretion was performed in cases only. Association analysis with urine potassium was not possible for the rare haplotypes. The associated rare haplotypes are almost uniquely distributed amongst the control population, for which as measures of 24 hour urine potassium excretion are not available.