Table 4.
Pathway-enrichment of blood-based methylome-wide association results.
| Pathway | Pathway Source | GSEA ID | Size | Count | Z-Score | p-Value | q-Value |
|---|---|---|---|---|---|---|---|
| Plan 1: All Subjects | |||||||
| Type II diabetes mellitus | KEGG | M19708 | 47 | 14 | 4.017 | 2.95E-05 | 7.35E-03 |
| MHC class II antigen presentation | REACTOME | M705 | 91 | 16 | 3.557 | 1.87E-04 | 2.33E-02 |
| Host Interactions of HIV factors | REACTOME | M5283 | 132 | 11 | 3.202 | 6.81E-04 | 5.65E-02 |
| Lysosome | KEGG | M11266 | 121 | 11 | 3.111 | 9.31E-04 | 5.80E-02 |
| GABA-B receptor activation | REACTOME | M954 | 38 | 10 | 3.008 | 1.31E-03 | 6.54E-02 |
| L1CAM interactions | REACTOME | M872 | 86 | 17 | 2.987 | 1.41E-03 | 6.54E-02 |
| Vascular smooth muscle contraction | KEGG | M9387 | 115 | 22 | 2.852 | 2.17E-03 | 7.73E-02 |
| Plan 2: Only Males | |||||||
| Neurotransmitter receptors and postsynaptic signal transmission | REACTOME | M752 | 137 | 25 | 3.369 | 3.77E-04 | 1.02E-01 |
| Transmission across chemical synapses | REACTOME | M15514 | 186 | 34 | 3.287 | 5.06E-04 | 1.02E-01 |
| GABA receptor activation | REACTOME | M976 | 52 | 11 | 3.041 | 1.18E-03 | 1.06E-01 |
| Phospholipase C-mediated cascade | REACTOME | M856 | 54 | 12 | 2.754 | 2.94E-03 | 1.98E-01 |
| Plan 3: Only Females | |||||||
| GABA-B receptor activation | REACTOME | M954 | 38 | 11 | 3.698 | 1.09E-04 | 2.66E-02 |
| O-linked glycosylation of mucins | REACTOME | M546 | 59 | 10 | 3.418 | 3.15E-04 | 3.86E-02 |
| GABA receptor activation | REACTOME | M976 | 52 | 13 | 3.364 | 3.84E-04 | 3.86E-02 |
| extracellular matrix (ECM) regulators | NABA | M3468 | 238 | 41 | 3.361 | 3.88E-04 | 3.86E-02 |
| Plan 5: Non-hypertensive Subjects | |||||||
| Retinoblastoma 1 pathway | PID | M279 | 65 | 10 | 3.71 | 1.04E-04 | 3.20E-02 |
| Circadian clock | REACTOME | M938 | 53 | 12 | 3.508 | 2.26E-04 | 3.48E-02 |
| Alzheimer’s disease | KEGG | M16024 | 169 | 24 | 3.011 | 1.30E-03 | 1.34E-01 |
GSEA: Gene Set Enrichment Analysis; Size: number of genes in the pathway; Count: number of enriched genes in the pathway; KEGG: Kyoto Encyclopedia of Genes and Genomes; REACTOME: REACTOME pathway knowledgebase; PID: Pathway Interaction Database; NABA: Matrisome Project. The false discovery rate thresholds were 0.1, 0.2, 0.05, and 0.15 for plans 1, 2, 3, and 5, respectively.