Table 2.
GWAS of biochemical traits in thrombosis and hemostasis
| Trait | Year | Study | N: | SNPs Tested | Locus | SNP (Tested Allele) | Beta Coeff. (95% CI) | P-Value | Functional Class |
|---|---|---|---|---|---|---|---|---|---|
|
| |||||||||
| VWF | 2010 | Smith NL et al. | 23608 | 2,600K imputed | ABO | rs687621 (C)* | 24.1 (21.4–26.8) | 5.0 × 10−324 | intronic |
| VWF | rs1063857 (C) | 6.0 (3.2 – 8.8) | 1.7 × 10−32 | synonymous | |||||
| STXBP5 | rs9390459 (A) | −4.8 (−7.5 – −2.1) | 1.2 × 10−22 | synonymous | |||||
| SCARA5 | rs27857224 (T) | 4.5 (1.5 −7.5) | 1.3 × 10−16 | intronic | |||||
| STX2 | rs7978987 (A) | 3.4 (0.6 – 6.2) | 3.8 × 10−11 | intronic | |||||
| TC2N | rs10133762 (T) | 3.1 (0.4 – 5.8) | 2.3 × 10−10 | intronic | |||||
| STAB2 | rs4981022 (C) | −3.6 (−6.8 – −0.4) | 7.3 × 10−10 | intronic | |||||
| CLEC4M | rs868875 (G) | −4.0 (−7.6 – −0.4) | 1.3 × 10−9 | 3′ UTR | |||||
|
| |||||||||
| VWF | 2013 | Desch KC et al. | 3462 | 723716 | ABO | rs687289 (T)* | 0.36 *** | 1.3 × 10−128 | intronic |
| VWF | rs1063856(A) | −0.095 | 4.9 × 10−16 | missense | |||||
| 2p11.2 (linkage) | N/A | N/A | N/A | N/A | |||||
|
| |||||||||
| aPTT | 2010 | Houlihan LM et al. | 1477 | 542050 | F12 | rs2731672 (A) | 0.45 | 2.16 × 10−30 | intronic |
| KNG1 | rs710446 (C) | −0.36 | 9.52 × 10−22 | missense | |||||
| HRG | rs9898 (T) | −0.26 | 1.34 × 10−11 | missense | |||||
|
| |||||||||
| aPTT | 2012 | Tang W et al. | 9240, 869-3467 replication | 2500K imputed | KNG1 | rs710446 (C) | −1.19 | 1.06 × 10−185 | missense |
| HRG | rs9898 (T) | −1.01 | 1.65 × 10−116 | missense | |||||
| ABO | rs687621 (G)* | −0.82 | 3.64 × 10−81 | intronic | |||||
| F12 | rs2545801 (G) | 1.55 | 4.30 × 10−60 | 5′ upstream | |||||
| F11 | rs2289252 (T) | −0.48 | 4.30 × 10−30 | intronic | |||||
| ABO | rs8176704 (T)** | 0.89 | 4.26 × 10−24 | intronic | |||||
| C6orf10 | rs2050190 (G) | −0.25 | 1.29 × 10−8 | intronic | |||||
| F5 | rs9332701 (G) | 0.54 | 3.70 × 10−8 | missense | |||||
|
| |||||||||
| Plasminogen | 2014 | Ma Q et al. | 3244 | 741807 4,500K imputed |
PLG | rs4252129 (C) | −0.16*** | 1.9 × 10−27 | missense |
| LPA | rs1084651 (G) | −0.038 | 1.6 × 10−15 | intronic | |||||
| SIGLEC14 | rs10412972 (G) | 0.026 | 1.1 × 10−8 | 5′ upstream | |||||
|
| |||||||||
| Fibrinogen | 2013 | Sabater-Lleal M et al. | 91323 | 2500K imputed | FGB | rs1800789 (G) | 0.031* | 1.68 × 10−127 | 5′ upstream |
| C5orf56 | rs2106854 (C) | −0.019 | 1.72 × 10−48 | intronic | |||||
| IL6R | rs4129267 (C) | −0.011 | 5.97 × 10−27 | intronic | |||||
| NLRP3 | rs10157379 (C) | 0.010 | 1.15 × 10−19 | intronic | |||||
| IL1F10 | rs6734238 (G) | −0.009 | 5.77 × 10−19 | 3′ downstream | |||||
| MSL2 | rs1154988 (T) | −0.010 | 9.64 × 10−17 | 3′ upstream | |||||
| LEPR + 16 other | rs1938492 (C) | 0.008 | 5.28 × 10−14 | 3′ downstream | |||||
|
| |||||||||
| PAI-1 | 2012 | Huang J et al. | 19599, 10796 replication | 2500K imputed | SERPINE1 | rs2227631 (G) | 0.073 | 3.2 × 10−24 | 5′ upstream |
| ACHE | rs6976053 (C) | 0.048 | 5.8 × 10−13 | 3′ downstream | |||||
| ARNTL | rs6486122 (C) | 0.046 | 1.7 × −10−10 | intronic | |||||
| PPARG | rs11128603 (G) | 0.066 | 9.4 × 10−8 | intronic | |||||
|
| |||||||||
| t-PA | 2014 | Huang J et al. | 26929 | 2500K imputed | STXBP5 | rs9399599 (A) | 0.032*** | 2.9 × 10−14 | intronic |
| STX2 | rs7301826 (T) | 0.027 | 1.0 × 10−9 | intronic | |||||
| POLB | rs3136739 (G) | 0.063 | 1.3 × 10−9 | intronic | |||||
|
| |||||||||
| Protein C | 2012 | Oudot-Mellakh T et al. | 951 1921 |
472173 | PROCR | rs8119351 (A) | 20.6 | 1.11 × 10−31 | 5′ upstream |
|
| |||||||||
| Protein C | 2010 | Tang W et al. | 8048, 1376 replication | 2500K imputed | PROCR | rs8119351 (A) | 0.480*** | 2.68 × 10−203 | 5′ upstream |
| EDEM2 | rs6120849 (T) | −0.141 | 7.19 × 10−37 | intronic | |||||
| PROC | rs1158867 (C) | −0.123 | 3.77 × 10−36 | intronic | |||||
| GCKR | rs1260326 (T) | 0.082 | 2.04 × 10−17 | missense | |||||
| BAZ1B | rs17145713 (T) | −0.062 | 2.50 × 10−7 | intronic | |||||
|
| |||||||||
| Protein C | 2014 | Munir MS et al. | 2,701 | 2,600K | PROCR | rs867186 (T) | 0.49*** | 9.84 × 10−65 | missense |
| Intergenic | rs7580658 (G) | 0.15 | 1.70 × 10−12 | intergenic | |||||
| PROC | rs1799808 (C) | 0.15 | 2.03 × 10−12 | 5′ upstream | |||||
K = × 1000
*
Tags the O allele of ABO.
**
Tags the A2 allele of ABO
Beta values reported on log transformed levels