Интеграция генетических факторов риска и лекарственно-ассоциированных генов при терапии биполярного расстройства: биоинформатический и системно-фармакологический анализ сигнальных путей
Primary g:Profiler enrichment by evidence layer
correction was applied separately within each g:Profiler query; dash indicates no corrected significant term or no applicable intersection; full query results are provided in Supplementary Table S22
Evidence layer | Input / recognized | Database and term | g:SCS-adjusted p | Intersection genes | Interpretation |
Strict BD mapping | 80 / 68 | All four sources: no corrected term | — | — | Primary disease set; no significant enrichment. |
Functionally expanded BD | 307 / 249 | GO:MF GO:0008331; high voltage-gated calcium channel activity | 0.0486 | CACNA1B; CACNA1C; CACNB2 | Sensitivity-only disease-side calcium-channel signal. |
Tier 1 quantitative targets | 22 / 22 | KEGG:04082; Neuroactive ligand signaling | 3.65 × 10⁻²¹ | 16 receptor/transporter genes | Expected pharmacodynamic composition signal. |
Tier 1 quantitative targets | 22 / 22 | KEGG:04020; Calcium signaling pathway | 4.15 × 10⁻⁶ | ADRA1A; ADRA1B; CHRM1; HRH1; HTR2A; HTR2C; HTR6; HTR7 | Receptor-mediated drug-side calcium signal; no voltage-gated channel target. |
Tier 2 mechanistic | 2 / 2 | All four sources: no corrected term | — | — | No significant enrichment at this set size. |
Tier 3 PK | 5 / 5 | GO:BP GO:0006805; xenobiotic metabolic process | 6.77 × 10⁻⁹ | ABCB1; CYP2B6; CYP2C19; CYP2D6; CYP3A4 | Expected exposure and metabolism signal, not BD pathogenesis. |
PGx marker layer | 1 / 1 | GO:MF GO:0071886; ligand-binding annotation | 0.04999 | HTR2A | Single-gene annotation; not a pathway-level result. |