Table 1.
Allele distributions of SNPs in TF pathway genes in cases and controls
Gene | Chr | SNP | Bp (hg18) | Region | Minor allele | Major allele | Freqency cases | Frequency controls | χ 2 | OR | P-value (unadj.) | FDR |
---|---|---|---|---|---|---|---|---|---|---|---|---|
F2 | 11 | rs2070852 | 46701501 | Intronic | C | G | 0.290 | 0.316 | 0.99 | 0.89 | 0.319 | 0.83 |
F2 | 11 | rs3136516 | 46717332 | Intronic | G | A | 0.448 | 0.448 | 0.00 | 1.00 | 0.996 | 1.00 |
F2 | 11 | rs5896 | 46701579 | Coding (T > M) | T | C | 0.133 | 0.127 | 0.09 | 1.05 | 0.760 | 0.93 |
F2 | 11 | rs1799963 | 46717631 | 3UTR | A | G | 0.013 | 0.005 | 2.20 | 2.60 | 0.138 | 0.61 |
F3 | 1 | rs3917643 | 94774455 | Intronic | C | T | 0.058 | 0.080 | 2.58 | 0.70 | 0.109 | 0.57 |
F3 | 1 | rs696619 | 94777808 | Intronic | A | G | 0.414 | 0.440 | 0.87 | 0.90 | 0.351 | 0.83 |
F3 | 1 | rs1324214 | 94769876 | Intronic | A | G | 0.240 | 0.271 | 1.59 | 0.85 | 0.207 | 0.70 |
F3 | 1 | rs3917615 | 94774578 | Intronic | T | C | 0.439 | 0.433 | 0.04 | 1.02 | 0.839 | 0.93 |
F5 | 1 | rs12120605 | 167789178 | Intronic | T* | G | 0.140 | 0.100 | 4.93 | 1.47 | 0.026 | 0.22 |
F5 | 1 | rs6427202 | 167795454 | Intronic | C* | T | 0.454 | 0.394 | 4.82 | 1.28 | 0.028 | 0.22 |
F5 | 1 | rs9332542 | 167805907 | Intronic | A | G* | 0.286 | 0.344 | 5.16 | 0.76 | 0.023 | 0.22 |
F5 | 1 | rs6427199 | 167790161 | Intronic | A | G* | 0.364 | 0.420 | 4.36 | 0.79 | 0.037 | 0.23 |
F5 | 1 | rs6012 | 167795204 | Intronic | T | C | 0.162 | 0.164 | 0.01 | 0.98 | 0.906 | 0.93 |
F5 | 1 | rs4524 | 167778379 | Coding (K > R) | C | T | 0.261 | 0.257 | 0.03 | 1.02 | 0.871 | 0.93 |
F5 | 1 | rs4656687 | 167771782 | Intronic | C | T | 0.323 | 0.312 | 0.17 | 1.05 | 0.676 | 0.93 |
F5 | 1 | rs6025 | 167785673 | Coding (Q > R) | T | C | 0.033 | 0.034 | 0.02 | 0.96 | 0.900 | 0.93 |
F5 | 1 | rs9287095 | 167805090 | Intronic | A | G | 0.094 | 0.104 | 0.34 | 0.90 | 0.561 | 0.93 |
F5 | 1 | rs10158595 | 167786988 | Intronic | T | C | 0.223 | 0.248 | 1.14 | 0.87 | 0.286 | 0.83 |
F5 | 1 | rs9332618 | 167767105 | Intronic | A | G | 0.133 | 0.139 | 0.08 | 0.95 | 0.773 | 0.93 |
F7 | 13 | rs491098 | 112817347 | Intronic | C | G | 0.106 | 0.117 | 0.39 | 0.90 | 0.530 | 0.93 |
F10 | 13 | rs3093261 | 112824083 | Near 5UTR | T* | C | 0.460 | 0.391 | 6.41 | 1.33 | 0.011 | 0.22 |
F10 | 13 | rs3211744 | 112832999 | Intronic | T | G | 0.136 | 0.154 | 0.85 | 0.87 | 0.358 | 0.83 |
F10 | 13 | rs2026160 | 112840894 | Intronic | C | A | 0.284 | 0.258 | 1.08 | 1.14 | 0.298 | 0.83 |
F10 | 13 | rs9549675 | 112846885 | Intronic | T | C | 0.205 | 0.239 | 2.10 | 0.83 | 0.148 | 0.61 |
F10 | 13 | rs3211719 | 112825510 | Intronic | G | A | 0.252 | 0.245 | 0.09 | 1.04 | 0.769 | 0.93 |
F10 | 13 | rs3211752 | 112835460 | Intronic | G | A | 0.499 | 0.489 | 0.13 | 1.04 | 0.716 | 0.93 |
F10 | 13 | rs556694 | 112828042 | Intronic | C | T | 0.093 | 0.089 | 0.04 | 1.04 | 0.836 | 0.93 |
F10 | 13 | rs3211770 | 112841850 | Intronic | A | G | 0.109 | 0.113 | 0.05 | 0.96 | 0.818 | 0.93 |
F10 | 13 | rs473598 | 112849190 | Intronic | A | G | 0.128 | 0.137 | 0.23 | 0.92 | 0.629 | 0.93 |
EPCR | 20 | rs2069948 | 33226150 | Intronic | C* | T | 0.468 | 0.408 | 4.72 | 1.27 | 0.030 | 0.22 |
TFPI | 2 | rs2192825 | 188099064 | Intronic | C | T | 0.439 | 0.402 | 1.81 | 1.16 | 0.178 | 0.66 |
TFPI | 2 | rs7594359 | 188117093 | Intronic | T | C | 0.461 | 0.441 | 0.52 | 1.08 | 0.472 | 0.93 |
TFPI | 2 | rs2192824 | 188077036 | Intronic | T | C | 0.449 | 0.428 | 0.54 | 1.09 | 0.461 | 0.93 |
TFPI | 2 | rs13424790 | 188032097 | Downstream | G | T | 0.317 | 0.310 | 0.08 | 1.03 | 0.778 | 0.93 |
TFPI | 2 | rs8176548 | 188048580 | Intronic | T | C | 0.351 | 0.347 | 0.02 | 1.02 | 0.878 | 0.93 |
TFPI | 2 | rs10187622 | 188122406 | Intronic | T | C | 0.161 | 0.165 | 0.03 | 0.97 | 0.864 | 0.93 |
TFPI | 2 | rs12613071 | 188096556 | Intronic | C | T | 0.202 | 0.195 | 0.09 | 1.04 | 0.762 | 0.93 |
P-values were determined by the χ2 -test. Alleles for the positive DNA strand (UCSC annotated) are shown. Significantly associated SNPs; bold, and factor V Leiden (F5 rs6025) and prothrombin G20210A (F2 rs1799963); italic. *Risk alleles for significant SNPs.
Chr: chromosome. OR: Odds ratio as determined for the minor allele with the major allele as reference. FDR: False discovery rate as described by Benjamini and Hochberg [28].