Association between common CHARGE variants and FVIII PK parameters or plasma VWF properties
| . | VWF . | CLEC4M . | SCARA5 . | STAB2 . | TC2N . | |||
|---|---|---|---|---|---|---|---|---|
| rs1063856/rs1063857 . | rs868875 . | rs2726953 . | rs9644133 . | rs4981022 . | rs12229292 . | rs10133762 . | ||
| MAF = 0.297 . | MAF = 0.209 . | MAF = 0.263 . | MAF = 0.224 . | MAF = 0.221 . | MAF = 0.337 . | MAF = 0.5 . | ||
| FVIII PK | ||||||||
| Cl, mL/h | −32.21 (−64.43 to 0.02) | 39.50 (2.19 to 76.83) | −1.26 (−38.55 to 36.04) | −7.33 (−48.35 to 33.69) | 22.08 (−13.66 to 57.81) | −10.11 (−35.73 to 15.51) | −32.61 (−64.41 to −0.82) | |
| P = .05 | P = .039 | P = .946 | P = .719 | P = .219 | P = .43 | P = .045 | ||
| k, h−1 | −0.004 (−0.013 to 0.005) | 0.008 (-0.002 to 0.018) | 0.004 (−0.006 to 0.013) | −0.005 (−0.015 to 0.006) | 0.013 (0.004 to 0.022) | −0.006 (−0.013 to 0.001) | −0.006 (−0.014 to 0.003) | |
| P =.391 | P = .109 | P = .444 | P = .387 | P = .005 | P = .079 | P = .186 | ||
| Half-life, h | 0.591 (−0.794 to 1.977) | −1.052 (−2.645 to 0.54) | −0.647 (−2.133 to 0.84) | 0.826 (−0.806 to 2.458) | −1.941 (−3.308 to 0.573) | 0.854 (−0.176 to 1.883) | 0.917 (−0.406 to 2.24) | |
| P =.393 | P = .189 | P = .393 | P = .311 | P = .007 | P = .102 | P = .168 | ||
| AUC, h·mIU/dL | −3.61 (−2.99 to 2.27) | −3.45 (−6.3 to 5.92) | 0.68 (−28.18 to 29.54) | 0.12 (−3.17 to 31.93) | −27.04 (-53.97 to −0.011) | 14.36 (−0.005 to 33.88) | 22.45 (−0.25 to 47.39) | |
| P = .783 | P = .019 | P = .962 | P = .994 | P = .049 | P = .145 | P = .076 | ||
| Plasma levels | ||||||||
| VWF:Ag, % | 4.509 (−11.14 to 20.15) | −0.899 (−19.41 to 17.61) | 2.119 (−13.42 to 17.66) | 7.251 (−9.71 to 24.2) | −19.399 (−3484 to −3.96) | 4.966 (−6.73 to 16.67) | 9.866 (−3.79 to 23.53) | |
| P = .562 | P = .922 | P = .783 | P = .391 | P = .015 | P = .394 | P = .151 | ||
| VWFpp/VWF:Ag | 0.022 (−0.146 to 0.189) | 0.127 (−0.066 to 0.319) | 0.011 (−0.155 to 0.177) | −0.027 (−0.21 to 0.156) | 0.076 (−0.102 to 0.254) | 0.025 (−0.101 to 0.151) | −0.09 (−0.237 to 0.057) | |
| P = .795 | P = .191 | P = .896 | P = .767 | P = .395 | P = .685 | P = .222 | ||
| . | VWF . | CLEC4M . | SCARA5 . | STAB2 . | TC2N . | |||
|---|---|---|---|---|---|---|---|---|
| rs1063856/rs1063857 . | rs868875 . | rs2726953 . | rs9644133 . | rs4981022 . | rs12229292 . | rs10133762 . | ||
| MAF = 0.297 . | MAF = 0.209 . | MAF = 0.263 . | MAF = 0.224 . | MAF = 0.221 . | MAF = 0.337 . | MAF = 0.5 . | ||
| FVIII PK | ||||||||
| Cl, mL/h | −32.21 (−64.43 to 0.02) | 39.50 (2.19 to 76.83) | −1.26 (−38.55 to 36.04) | −7.33 (−48.35 to 33.69) | 22.08 (−13.66 to 57.81) | −10.11 (−35.73 to 15.51) | −32.61 (−64.41 to −0.82) | |
| P = .05 | P = .039 | P = .946 | P = .719 | P = .219 | P = .43 | P = .045 | ||
| k, h−1 | −0.004 (−0.013 to 0.005) | 0.008 (-0.002 to 0.018) | 0.004 (−0.006 to 0.013) | −0.005 (−0.015 to 0.006) | 0.013 (0.004 to 0.022) | −0.006 (−0.013 to 0.001) | −0.006 (−0.014 to 0.003) | |
| P =.391 | P = .109 | P = .444 | P = .387 | P = .005 | P = .079 | P = .186 | ||
| Half-life, h | 0.591 (−0.794 to 1.977) | −1.052 (−2.645 to 0.54) | −0.647 (−2.133 to 0.84) | 0.826 (−0.806 to 2.458) | −1.941 (−3.308 to 0.573) | 0.854 (−0.176 to 1.883) | 0.917 (−0.406 to 2.24) | |
| P =.393 | P = .189 | P = .393 | P = .311 | P = .007 | P = .102 | P = .168 | ||
| AUC, h·mIU/dL | −3.61 (−2.99 to 2.27) | −3.45 (−6.3 to 5.92) | 0.68 (−28.18 to 29.54) | 0.12 (−3.17 to 31.93) | −27.04 (-53.97 to −0.011) | 14.36 (−0.005 to 33.88) | 22.45 (−0.25 to 47.39) | |
| P = .783 | P = .019 | P = .962 | P = .994 | P = .049 | P = .145 | P = .076 | ||
| Plasma levels | ||||||||
| VWF:Ag, % | 4.509 (−11.14 to 20.15) | −0.899 (−19.41 to 17.61) | 2.119 (−13.42 to 17.66) | 7.251 (−9.71 to 24.2) | −19.399 (−3484 to −3.96) | 4.966 (−6.73 to 16.67) | 9.866 (−3.79 to 23.53) | |
| P = .562 | P = .922 | P = .783 | P = .391 | P = .015 | P = .394 | P = .151 | ||
| VWFpp/VWF:Ag | 0.022 (−0.146 to 0.189) | 0.127 (−0.066 to 0.319) | 0.011 (−0.155 to 0.177) | −0.027 (−0.21 to 0.156) | 0.076 (−0.102 to 0.254) | 0.025 (−0.101 to 0.151) | −0.09 (−0.237 to 0.057) | |
| P = .795 | P = .191 | P = .896 | P = .767 | P = .395 | P = .685 | P = .222 | ||
Bold results are statistically significant. Statistical significance was determined using regression analysis. Data are presented as β (CI) and P value.
MAF, minor allele frequency.