Table 2.
Summary of genomic and molecular associations across clinical phenotypes
| Clinical phenotype | Genomic | Molecular | |||||
| FBAT | EIGENSTRAT | DNA methylation | mRNA | miRNA | |||
| Family trio | Maternal | Union of FBAT and EIGENSTRAT | Maternal | ||||
| No. of variants | No. of variants | No. of genes | No. of probes | No. of genes | No. of genes | No. of miRNAs | |
| PTB | — | — | — | 2 | 2 | 215*,†,‡ | — |
| EPTB | 3 | 42 | 7 | 273 | 258* | 650*,†,‡,§ | — |
| VEPTB | 7 | 960 | 217*,†,§ | 811 | 735 | 838*,†,‡ | — |
| PROM | 23 | 3 | 12 | — | — | — | — |
| Pre-eclampsia | 78 | 1046 | 312*,§ | — | — | 8 | — |
| Idiopathic PTB | 1 | 10 | 3 | 11 | 11 | 17 | — |
| Placenta-related | 13 | — | 10 | — | — | — | — |
| Uterine-related | 105 | 276 | 132§ | — | — | — | — |
| Cervix-related | 28 | 16 | 18 | — | — | — | — |
Overview of statistically significant genomic associations (FDR <10%) and differentially expressed [FDR <10% and absolute log2(FC) >0.5] and methylated genes (FDR <10%) between cases and controls for each phenotype.
*
Statistically significant overlap with gene lists from dbPTB (41).
†
Statistically significant overlap with candidate PTB genes (McElroy_PTB, ref. 19).
‡
Statistically significant overlap with Pre-Eclampsia SNP Resource (59).
§
Statistically significant overlap with genes involved in human birth timing (Plunkett_HBT, ref. 60).