Association* of the C4BPB/C4BPA SNPs identified through the GAIT GWAS with plasma levels of C4BPα, C4BPβ, α7β0, free PS, and total PS
| Gene/rsID (position, bp)/genotype . | Phenotype . | ||||
|---|---|---|---|---|---|
| C4BPα . | C4BPβ . | %α7β0 . | fPS . | Total PS . | |
| C4BPB | |||||
| rs3813948 (205 336 481) | |||||
| TT (n = 313) | 323.1 (79.37) | 256.4 (51.94) | 19.3 (10.24) | 97.0 (21.27) | 102.2 (19.73) |
| TC (n = 37) | 335.5 (80.67) | 231.1 (42.06) | 30.0 (7.35) | 92.7 (19.25) | 94.5 (19.12) |
| CC (n = 2) | 354.8 (63.92) | 238.0 (58.69) | 33.3 (4.53) | 97.0 (16.97) | 93.5 (16.26) |
| R2, % | 0.87 | 1.56 | 10.98 | 0.01 | 0.71 |
| P | .0687 | .0326 | 4.37 × 10−10 | .9321 | .1842 |
| C4BPA | |||||
| rs11120218 (205 345 074) | |||||
| GG (n = 235) | 315.1 (77.42) | 252.9 (52.01) | 18.5 (10.41) | 97.5 (21.35) | 101.4 (19.35) |
| GA (n = 112) | 341.9 (77.95) | 255.6 (50.34) | 24.2 (9.34) | 94.7 (22.44) | 101.4 (20.78) |
| AA (n = 5) | 383.8 (124.03) | 244.7 (62.06) | 35.3 (5.76) | 93.0 (19.45) | 97.4 (19.50) |
| R2, % | 3.81 | 0.01 | 10.62 | 0.41 | 0.00 |
| P | 5.64 × 10−4 | .8979 | 1.55 × 10−9 | .1999 | .5523 |
| rs2808470 (205 353 810) | |||||
| CC (n = 221) | 315.8 (77.21) | 254.0 (52.17) | 18.3 (10.64) | 97.0 (20.91) | 102.1 (18.95) |
| CT (n = 122) | 338.6 (79.96) | 253.8 (50.71) | 23.9 (8.99) | 95.9 (21.55) | 101.9 (21.25) |
| TT (n = 9) | 345.2 (108.26) | 234.6 (52.41) | 30.2 (10.96) | 97.3 (20.34) | 101.4 (21.15) |
| R2, % | 2.77 | 0.01 | 9.80 | 0.12 | 0.02 |
| P | 1.35 × 10−3 | .9615 | 3.36 × 10−9 | .4676 | .6502 |
| Gene/rsID (position, bp)/genotype . | Phenotype . | ||||
|---|---|---|---|---|---|
| C4BPα . | C4BPβ . | %α7β0 . | fPS . | Total PS . | |
| C4BPB | |||||
| rs3813948 (205 336 481) | |||||
| TT (n = 313) | 323.1 (79.37) | 256.4 (51.94) | 19.3 (10.24) | 97.0 (21.27) | 102.2 (19.73) |
| TC (n = 37) | 335.5 (80.67) | 231.1 (42.06) | 30.0 (7.35) | 92.7 (19.25) | 94.5 (19.12) |
| CC (n = 2) | 354.8 (63.92) | 238.0 (58.69) | 33.3 (4.53) | 97.0 (16.97) | 93.5 (16.26) |
| R2, % | 0.87 | 1.56 | 10.98 | 0.01 | 0.71 |
| P | .0687 | .0326 | 4.37 × 10−10 | .9321 | .1842 |
| C4BPA | |||||
| rs11120218 (205 345 074) | |||||
| GG (n = 235) | 315.1 (77.42) | 252.9 (52.01) | 18.5 (10.41) | 97.5 (21.35) | 101.4 (19.35) |
| GA (n = 112) | 341.9 (77.95) | 255.6 (50.34) | 24.2 (9.34) | 94.7 (22.44) | 101.4 (20.78) |
| AA (n = 5) | 383.8 (124.03) | 244.7 (62.06) | 35.3 (5.76) | 93.0 (19.45) | 97.4 (19.50) |
| R2, % | 3.81 | 0.01 | 10.62 | 0.41 | 0.00 |
| P | 5.64 × 10−4 | .8979 | 1.55 × 10−9 | .1999 | .5523 |
| rs2808470 (205 353 810) | |||||
| CC (n = 221) | 315.8 (77.21) | 254.0 (52.17) | 18.3 (10.64) | 97.0 (20.91) | 102.1 (18.95) |
| CT (n = 122) | 338.6 (79.96) | 253.8 (50.71) | 23.9 (8.99) | 95.9 (21.55) | 101.9 (21.25) |
| TT (n = 9) | 345.2 (108.26) | 234.6 (52.41) | 30.2 (10.96) | 97.3 (20.34) | 101.4 (21.15) |
| R2, % | 2.77 | 0.01 | 9.80 | 0.12 | 0.02 |
| P | 1.35 × 10−3 | .9615 | 3.36 × 10−9 | .4676 | .6502 |
R2 represents the percentage of variance explained by the genotype.
GAIT indicates Genetic Analysis of Idiopathic Thrombophilia; fPS, free Protein S; GWAS, genome-wide association study; and PS, Protein S.
Mean (SD).