Association of rs13146272, rs1613662, and rs2227589 with VTE
| Chromosome, gene . | Position . | rsID . | Alleles* . | Study† . | MAF . | OR‡ (95% confidence interval) . | P . | |
|---|---|---|---|---|---|---|---|---|
| Controls . | Cases . | |||||||
| 1, SERPINC1 | 172,152,839 | rs2227589§ | G/A | GWAS | 0.10 | 0.12 | 1.22 (0.95-1.55) | .112 |
| MARTHA | 0.11 | 0.11 | 0.99 (0.80-1.22) | .918 | ||||
| FARIVE | 0.10 | 0.10 | 0.98 (0.74-1.28) | .868 | ||||
| All | 1.05 (0.92-1.21) | .454 | ||||||
| 4, CYP4V2 | 187,357,205 | rs13146272 | A/C | GWAS | 0.37 | 0.33 | 0.77 (0.61-0.96) | .020 |
| MARTHA | 0.38 | 0.36 | 0.86 (0.68-1.09) | .200 | ||||
| FARIVE | 0.39 | 0.37 | 0.89 (0.74-1.08) | .236 | ||||
| All | 0.84 (0.74-0.95) | .007 | ||||||
| 19, GP6 | 60,228,407 | rs1613662 | T/C | GWAS | 0.15 | 0.13 | 0.76 (0.59-0.99) | .039 |
| MARTHA | 0.15 | 0.14 | 0.86 (0.70-1.06) | .157 | ||||
| FARIVE | 0.16 | 0.13 | 0.76 (0.59-0.99) | .041 | ||||
| All | 0.80 (0.70-0.92) | .002 | ||||||
| Chromosome, gene . | Position . | rsID . | Alleles* . | Study† . | MAF . | OR‡ (95% confidence interval) . | P . | |
|---|---|---|---|---|---|---|---|---|
| Controls . | Cases . | |||||||
| 1, SERPINC1 | 172,152,839 | rs2227589§ | G/A | GWAS | 0.10 | 0.12 | 1.22 (0.95-1.55) | .112 |
| MARTHA | 0.11 | 0.11 | 0.99 (0.80-1.22) | .918 | ||||
| FARIVE | 0.10 | 0.10 | 0.98 (0.74-1.28) | .868 | ||||
| All | 1.05 (0.92-1.21) | .454 | ||||||
| 4, CYP4V2 | 187,357,205 | rs13146272 | A/C | GWAS | 0.37 | 0.33 | 0.77 (0.61-0.96) | .020 |
| MARTHA | 0.38 | 0.36 | 0.86 (0.68-1.09) | .200 | ||||
| FARIVE | 0.39 | 0.37 | 0.89 (0.74-1.08) | .236 | ||||
| All | 0.84 (0.74-0.95) | .007 | ||||||
| 19, GP6 | 60,228,407 | rs1613662 | T/C | GWAS | 0.15 | 0.13 | 0.76 (0.59-0.99) | .039 |
| MARTHA | 0.15 | 0.14 | 0.86 (0.70-1.06) | .157 | ||||
| FARIVE | 0.16 | 0.13 | 0.76 (0.59-0.99) | .041 | ||||
| All | 0.80 (0.70-0.92) | .002 | ||||||
Common/minor alleles observed in controls.
In the GWAS study, the number of controls and cases were 1228 and 419. In MARTHA and FARIVE, corresponding numbers were 801 and 1150, and 607 and 607, respectively.
OR associated with the minor alleles under the assumption of additive effects for the rs2227589 polymorphism and dominant effects for the rs1613662 and rs13146272 polymorphisms.
Imputed genotype data were used for the rs2227589 in the GWAS study, as this SNP was not represented on the Illumina chip.