Multivariate regression model of VWF missense variants and VWF antigen and FVIII coagulation activity
| Variant . | Rs number . | Annotation . | VWF β (SE) . | VWF P value . | FVIII β (SE) . | FVIII P value . |
|---|---|---|---|---|---|---|
| chr12:6153534 | 1063856 | Thr789Ala | 5.92 (1.48) | 6.4E-05 | 7.68 (1.30) | 4.4E-09 |
| chr12:6145649 | 57950734 | His817Gln | −1.48 (2.63) | .57 | −16.72 (2.36) | 1.6E-12 |
| chr12:6128280 | 11063987 | Asn1435Ser | .087 (2.70) | .97 | 6.60 (2.45) | .007 |
| chr12:6128269 | 150077670 | Met1439Val | −20.75 (13.09) | .11 | −3.06 (11.09) | .78 |
| chr12:6128446 | 11063988 | Asp1472His | 7.63 (1.87) | 4.8E-05 | 4.55 (1.70) | .007 |
| chr12:6128127 | 149424724 | Ser1486Leu | −32.1 (9.07) | 4.1E-04 | −1.92 (8.17) | .81 |
| chr12:6103072 | 76342212 | Arg2185Gln | −12.7 (2.16) | 4.54E-09 | −7.02 (1.94) | 3.1E-04 |
| chr12:6094771 | 61750625 | Arg2287Trp | −41.5 (8.57) | 1.3E-06 | −21.2 (7.91) | .007 |
| Variant . | Rs number . | Annotation . | VWF β (SE) . | VWF P value . | FVIII β (SE) . | FVIII P value . |
|---|---|---|---|---|---|---|
| chr12:6153534 | 1063856 | Thr789Ala | 5.92 (1.48) | 6.4E-05 | 7.68 (1.30) | 4.4E-09 |
| chr12:6145649 | 57950734 | His817Gln | −1.48 (2.63) | .57 | −16.72 (2.36) | 1.6E-12 |
| chr12:6128280 | 11063987 | Asn1435Ser | .087 (2.70) | .97 | 6.60 (2.45) | .007 |
| chr12:6128269 | 150077670 | Met1439Val | −20.75 (13.09) | .11 | −3.06 (11.09) | .78 |
| chr12:6128446 | 11063988 | Asp1472His | 7.63 (1.87) | 4.8E-05 | 4.55 (1.70) | .007 |
| chr12:6128127 | 149424724 | Ser1486Leu | −32.1 (9.07) | 4.1E-04 | −1.92 (8.17) | .81 |
| chr12:6103072 | 76342212 | Arg2185Gln | −12.7 (2.16) | 4.54E-09 | −7.02 (1.94) | 3.1E-04 |
| chr12:6094771 | 61750625 | Arg2287Trp | −41.5 (8.57) | 1.3E-06 | −21.2 (7.91) | .007 |
Independent effects of each of the 8 missense variants on VWF or FVIII phenotype were evaluated by performing a multivariable regression model adjusted for age, sex, genetic ancestry (as inferred from principal component analysis) and the 7 remaining missense variants. The β coefficient corresponds to the mean difference in natural-log–transformed VWF or FVIII between an individual carrying 1 copy of the “effect allele” compared with individuals carrying 0 copies of the effect allele.
SE, standard error.