Table 1. Significant associations of common genetic variants in KNG1 (NM_001102416.2) and F11 (NM_000128.3) with plasma FXI levels.
| Gene | Genome Location | Nucleotide Change | dbSNP v137 | Tested Allele1 | MAF (%)2 | β | P-value | Bonferroni-adjusted p-value |
|---|---|---|---|---|---|---|---|---|
| KNG1 | chr3:186,441,823 | c.392-1054A>G | rs1656915 | A | 26.64 | -10.9 | 0.034 | 1.000 |
| KNG1 | chr3:186,442,707 | c.392-170T>C | rs1648711 | T | 50.00 | -12.1 | 0.016 | 1.000 |
| KNG1 | chr3:186,443,756 | c.564+707C>G | rs266724 | C | 50.00 | -12.1 | 0.016 | 1.000 |
| KNG1 | chr3:186,444,831 | c.565-195T>G | rs62294376 | G | 38.32 | 16.5 | 0.003 | 0.355 |
| KNG1 | chr3:186,450,895 | c.930+432T>C | rs1656926 | T | 29.91 | -16.8 | 0.007 | 0.887 |
| KNG1 | chr3:186,453,418 | c.930+2955A>T | rs4686800 | A | 33.18 | -8.4 | 0.045 | 1.000 |
| KNG1 | chr3:186,454,180 | c.931-2708A>C | rs5030062 | C | 38.79 | 15.7 | 0.001 | 0.148 |
| KNG1 | chr3:186,458,322 | c.1126-989C>T | rs3856930 | T | 35.05 | 12.2 | 0.015 | 1.000 |
| KNG1 | chr3:186,458,910 | c.1126-401G>A | rs5030081 | A | 14.95 | 23.2 | 0.002 | 0.227 |
| KNG1 | chr3:186,459,927 | c.1742T>C | rs710446 | C | 47.20 | 19.1 | 0.00008 | 0.010 |
| F11 | chr4:187,197,994 | c.755+450C>T | rs4253416 | T | 46.73 | 11.5 | 0.043 | 1.000 |
| F11 | chr4:187,200,550 | c.756-616A>T | rs56810541 | T | 36.92 | 11.6 | 0.029 | 1.000 |
| F11 | chr4:187,210,837 | c.*1069delT | rs67843441 | A | 22.47 | 10.7 | 0.049 | 1.000 |
1 The tested allele is the minor allele by default in our population of 110 individuals.
2 The minor allele frequency from our population of 110 individuals, using PLINK package (version 1.07)[25].