Table 2.
Variants with significant or suggestive associations to preeclampsia within genes coding for coagulation proteins. Loss of function (LoF) is given per gene. All variants in Table 2 had a The American College of Medical Genetics and Genomics classification of variant of uncertain significance due to not enough evidence.
| RSID number | Gene name | P-value | OR (95% confidence interval) | MAFcases | MAFcontrols | Consequence (distance from exon, base pairs) | LoFtool* |
|---|---|---|---|---|---|---|---|
| rs1800385 | VWF | 3.57E-4 | 1.72 (1.27 – 2.32) | 0.059 | 0.035 | missense variant, V1565L | 0.03 |
| rs34444862 | VWF | 0.01 | 2.30 (1.19 – 4.35) | 0.015 | 0.007 | intron variant (−8) | |
| rs34230288 | VWF | 0.02 | 2.18 (1.11 – 4.17) | 0.014 | 0.007 | missense variant, A2178S | |
| rs36219245 | ADAMTS13 | 8.62E-4 | 0.57 (0.40 – 0.80) | 0.053 | 0.089 | splice region variant (+4) | 0.52 |
| rs36218903 | ADAMTS13 | 2.28E-3 | 3.06 (1.42 – 6.52) | 0.012 | 0.004 | intron variant (−33) | |
| rs41314453 | ADAMTS13 | 0.04 | 1.97 (0.99 – 3.78) | 0.013 | 0.007 | missense variant, A732V | |
| rs5898 | F2 | 0.03 | 1.31 (1.01 – 1.69) | 0.077 | 0.060 | synonymous variant, P395P | 0.13 |
| rs2301515 | F5 | 8.06E-3 | 1.21 (1.05 – 1.39) | 0.014 | 0.007 | intron variant (−50) | 0.09 |
| rs6023 | F5 | 0.01 | 1.48 (1.07 – 2.03) | 0.050 | 0.034 | splice region variant (+7) | |
| rs6025 | F5 | 0.05 | 1.49 (1.01 – 2.21) | 0.030 | 0.021 | missense variant, R534Q | |
| rs9332688 | F5 | 0.02 | 2.10 (1.07 – 3.98) | 0.014 | 0.007 | intron variant (−32) | |
| rs900258823 | F5 | 0.05 | 1.49 (1.01 – 2.21) | 0.030 | 0.021 | intron variant (−7098) | |
| rs6042 | F7 | 0.02 | 1.32 (1.04 – 1.67) | 0.086 | 0.067 | synonymous variant, H176H | 0.07 |
| rs6109 | SERPINA5 | 5.70E-3 | 1.22 (1.06 – 1.41) | 0.313 | 0.272 | intron variant (−34) | 0.06 |
| rs6115 | SERPINA5 | 0.04 | 1.15 (1.01 – 1.32) | 0.367 | 0.335 | missense variant, S64N | |
| rs5878 | SERPINC1 | 0.02 | 1.17 (1.02 – 1.35) | 0.316 | 0.282 | synonymous variant, Q337Q | na |
| rs5877 | SERPINC1 | 0.03 | 1.17 (1.01–1.34) | 0.301 | 0.269 | synonymous variant, V327V | na |
LoF tool – (loss of function tool); score of LoF susceptibility per gene < 0.2 = probably damaging, 0.2–0.7 = possibly damaging, > 0.7 = benign
na – not available
RSID – Single nucleotide polymorphism identifier, OR – Odds Ratio, MAF – Minor Allele Frequency