Table 3.
SNPs reported by VTE GWAS in European populations and their analysis in previously reported candidate gene studies or validation studies also in European populations.
| Gene | SNP | Type of Report | No. cases/controls (combined) |
MAF (cases) | OR (95% CI) | P-value | References |
|---|---|---|---|---|---|---|---|
| F5 | rs6025 | Candidate gene approach | 471/474 | 0.01* | 6.50 (1.80–23.00) (GG vs. AG) | <0.05 | [1] |
| rs4524 | Candidate gene approach | 1488/1439 | 0.25⁎⁎ | 0.77 (0.68–0.87) | 2.51 × 10−5 | [2] | |
| rs1018827 | Validation | 1040/16,936 | 0.07* | 1.53 (1.29–1.79) (AA vs. AG) | 6.53 × 10−6 | [3] | |
| rs6427196 | Validation | 1040/16,936 | 0.09* | 1.51 (1.28–1.78) (CC vs. CG) | 9.21 × 10−6 | [3] | |
| rs2420371Ϫ | – | – | – | – | – | ||
| F2 | rs1799963 | Candidate gene approach | 471/474 | <0.01* | 2.80 (1.40–5.60) | <0.05 | [4] |
| rs3136516 | Candidate gene approach | 428/795 | 0.28* | 1.50 (1.00–2.20) | <0.05 | [5] | |
| FGB/FGA/FGG | rs2066865 | Candidate gene approach | 471/471 | 0.30* | 2.40 (1.50–3.90) | 0.002 | [6] |
| rs6825454 | Candidate gene approach | 419/1228 | 0.31 | – | 2.80 × 10−4 | [7] | |
| rs7659024 | Validation | 1040/16,936 | 0.30* | 1.40 (1.09–1.78) (AA vs. GG) | 3.03 × 10−2 | [3] | |
| rs6536024 | Validation | 1040/16,936 | 0.46* | – | 0.23 | [3] | |
| rs7654093ф | – | – | – | – | – | ||
| F11 | rs3756008 | Candidate gene approach | 1837/2204 | – | 1.27 (1.16–1.38) | <0.05 | [8] |
| rs4253399 | Candidate gene approach | 1488/1439 | 0.41⁎⁎ | 1.28 (1.15–1.43) | 6.33 × 10.6 | [2] | |
| rs4253417 | – | – | – | – | – | ||
| rs4444878 | – | – | – | – | – | ||
| rs4253416 | – | – | – | – | – | ||
| ABO | rs2519093 | Candidate gene approach | 1488/1439 | 0.24⁎⁎ | 1.68 (1.48–1.91) | 8.08 × 10.16 | [2] |
| rs505922 | Validation | 1040/16,936 | 0.35* | 1.78 (1.46–2.15) (CC vs. TT) | 5.17 × 10−11 | [3] | |
| rs630014 | Validation | 1040/16,936 | 0.42⁎⁎ | 0.75 (0.67–0.84) | 2.67 × 10−7 | [2] | |
| ABO | rs8176719 | Validation | 1040/16,936 | 0.42⁎⁎ | 1.47 (1.32–1.64) | 5.68 × 10−12 | [2] |
| Validation | 96/148 | 0.48 | 1.62 (1.09–2.38) | 0.015 | [9] | ||
| rs687621 | Validation | 1040/16,936 | 0.38* | 1.74 (1.43–2.10) (AA vs. GG) | 5.45 × 10.10 | [3] | |
| rs495828 | Validation | 1040/16,936 | 0.16* | 2.09 (1.64–2.63) (GG vs. TT) | 1.72 × 10.10 | [3] | |
| rs8176750 | – | – | – | – | – | ||
| rs657152 | – | – | – | – | – | ||
| rs529565 | – | – | – | – | – | ||
| rs8176645Ж | – | – | – | – | – | ||
| C4BPB | rs3813948 | Validation | 1433/1402 | 0.07 | – | 0.25 | [10] |
| NME7 | rs16861990 | Validation | 1040/16,936 | 0.06* | 4.11 (2.14–7.33) (CC vs. AA) | 2.90 × 10−7 | [3] |
| PROCR | rs6087685 | Validation | 1040/16,936 | 0.39* | – | 0.92 | [3] |
| rs34234989Ɨ | – | – | – | – | – | ||
| TSPAN15 | rs78707713 | Validation | 1040/16,936 | 0.05* | 0.77 (0.66–0.91) (TT vs. TC) | 6.22 × 10−3 | [3] |
| rs17490626Ʊ | – | – | – | – | – | ||
| ZFPM2 | rs4602861 | – | – | – | – | – | |
| SLC44A2 | rs2288904 | Validation | 1040/16,936 | 0.18* | 0.63 (0.44–0.89) (AA vs. GG) | 2.42 × 10−2 | [3] |
| rs9797861¥ | – | – | – | – | – | ||
| SLC19A2 | rs2038024 | – | – | – | – | – | |
| CCDC181 | rs1208134 | – | – | – | – | – | |
| CNTN6 | rs6764623 | – | – | – | – | – | |
| SUSD1 | rs4979078 | – | – | – | – | – | |
| OTUD7A | rs7164569 | – | – | – | – | – | |
| SV2C | rs3733860 | – | – | – | – | – | |
| FUNDC2 | rs114209171 | – | – | – | – | – | |
| COX7A2L | rs72798544 | – | – | – | – | – | |
| – | rs113092656 | – | – | – | – | – | |
| EPHA3 | rs60942712 | – | – | – | – | – |
MAF: minor allele frequency; OR: odds ratio.
MAF values obtained from “Ensembl” database
Total MAF in the report (cases and controls)
SNP in high LD with rs6427196, particularly for European ancestry populations (r2>0.81), according to “Ensembl” database
SNP in high LD with rs2066865 for all populations according to “Ensembl” database (r2>0.81)
SNP in high LD with rs8176719, particularly for European ancestry populations (r2>0.90), according to “Ensembl” database
SNP in high LD with rs6087685 for all populations according to “Ensembl” database (r2>0.86, except in Kenya population)
SNP in high LD with rs78707713 for most populations, particularly the European ancestry populations (r2=1), according to “Ensembl” database
SNP in high LD with rs2288904 for most populations, particularly the European ancestry populations (r2>0.90), according to “Ensembl” database.