Table 5 Pathways were identified from the mapped genes of the IOW-ALSPAC consistent CpGs and DMRs
Name of the pathways | Source | P value | q value FDR B&H | Hit in query list |
|---|---|---|---|---|
Males | ||||
 Defective B4GALT7 causes EDS, progeroid type | REACTOME | 4.12 × 10–4 | 3.40 × 10–2 | SDC1, CSPG4 |
 Defective B3GALT6 causes EDSP2 and SEMDJL1 | REACTOME | 4.12 × 10–4 | 3.40 × 10–2 | SDC1, CSPG4 |
 Defective B3GAT3 causes JDSSDHD | REACTOME | 4.12 × 10–4 | 3.40 × 10–2 | SDC1, CSPG4 |
 Downregulation of SMAD2/3: SMAD4 transcriptional activity | REACTOME | 6.08 × 10–4 | 3.40 × 10–2 | SDC1, CSPG4 |
 A tetrasaccharide linker sequence is required for GAG synthesis | REACTOME | 7.79 × 10–4 | 3.40 × 10–2 | SDC1, CSPG4 |
 Diseases associated with glycosaminoglycan metabolism | REACTOME | 7.79 × 10–4 | 3.40 × 10–2 | SDC1, CSPG4 |
Females | ||||
 Circadian entrainment | KEGG | 6.15 × 10–4 | 2.86 × 10–2 | PER3, KCNJ3, KCNJ5 |
 Oxytocin signalling pathway | KEGG | 2.36 × 10–4 | 3.15 × 10–2 | OXT, KCNJ3, KCNJ5 |
 Inhibition of voltage-gated Ca2+ channels via Gbeta/gamma subunits | REACTOME | 8.73 × 10–4 | 2.86 × 10–2 | KCNJ3, KCNJ5 |
 G protein-gated Potassium channels | REACTOME | 8.73 × 10–4 | 2.86 × 10–2 | KCNJ3, KCNJ5 |
 Activation of G protein-gated Potassium channels | REACTOME | 8.73 × 10–4 | 2.86 × 10–2 | KCNJ3, KCNJ5 |
 Inwardly rectifying K + channels | REACTOME | 1.34 × 10–3 | 2.86 × 10–2 | KCNJ3, KCNJ5 |
 GABA B receptor activation | REACTOME | 2.23 × 10–3 | 3.09 × 10–2 | KCNJ3, KCNJ5 |
 Activation of GABAB receptors | REACTOME | 2.23 × 10–3 | 3.09 × 10–2 | KCNJ3, KCNJ5 |
 Sterols are 12-hydroxylated by CYP8B1 | REACTOME | 3.53 × 10–3 | 4.00 × 10–2 | CYP8B1 |
 Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal | REACTOME | 3.53 × 10–3 | 4.00 × 10–2 | MAD1L1 |
 Amplification of signal from the kinetochores | REACTOME | 3.53 × 10–3 | 4.00 × 10–2 | MAD1L1 |
 GABA receptor activation | REACTOME | 4.33 × 10–3 | 4.66 × 10–2 | KCNJ3, KCNJ5 |