Liao Chung-Chih, Liao Ke-Ru, Li Jung-Miao
School of Medicine, Chung Shan Medical University, Taichung 40201, Taiwan.
Department of Integrated Chinese and Western Medicine, Chung Shan Medical University Hospital, Taichung 40201, Taiwan.
Int J Mol Sci. 2026 Feb 6;27(3):1615. doi: 10.3390/ijms27031615.
Migraine is a complex neurovascular disorder in which immune signaling intersects with vascular and neural circuits, yet the tissue and cell-type context of common genetic risk remains incompletely defined. We integrated large-scale migraine genome-wide association study (GWAS) summary statistics with Genotype-Tissue Expression (GTEx) v8 expression and splicing quantitative trait loci (eQTLs and sQTLs), Bayesian co-localization, single-cell RNA sequencing of peripheral blood mononuclear cells (PBMCs) from migraine cases and controls, a healthy single-cell multi-omics atlas (assay for transposase-accessible chromatin (ATAC) plus RNA), high-dimensional weighted gene co-expression network analysis (hdWGCNA), and embryo-level spatial transcriptomics. Genetic signals were enriched in peripheral arteries, heart, and blood, and gene-level enrichment highlighted mucosal-smooth muscle organs including the bladder and the cervix endocervix. Cell-type prioritization consistently implicated endothelial and vascular smooth muscle lineages, with additional support for inhibitory interneurons and bladder epithelium. In PBMC T cells, co-expression modules capturing cytotoxic/activation and T-cell receptor signaling programs contained migraine-prioritized genes, including PTK2B, nominating immune activation circuitry as a component of genetic susceptibility. Spatial projection further localized risk concordance to craniofacial/meningeal interfaces and visceral smooth muscle-mucosal structures. Together, these analyses delineate a systemic neuroimmune-vascular architecture for migraine and provide genetically anchored candidate pathways and targets for mechanistic and therapeutic follow-up.
偏头痛是一种复杂的神经血管疾病,其中免疫信号与血管和神经回路相互交织,但常见遗传风险的组织和细胞类型背景仍未完全明确。我们将大规模偏头痛全基因组关联研究(GWAS)汇总统计数据与基因型-组织表达(GTEx)v8表达及剪接定量性状基因座(eQTL和sQTL)、贝叶斯共定位、偏头痛病例和对照外周血单个核细胞(PBMC)的单细胞RNA测序、健康单细胞多组学图谱(转座酶可及染色质检测(ATAC)加RNA)、高维加权基因共表达网络分析(hdWGCNA)以及胚胎水平空间转录组学相结合。遗传信号在外周动脉、心脏和血液中富集,基因水平的富集突出了包括膀胱和子宫颈内膜在内的黏膜-平滑肌器官。细胞类型优先级排序始终表明内皮细胞和血管平滑肌谱系与之相关,对抑制性中间神经元和膀胱上皮也有额外支持。在PBMC T细胞中,捕获细胞毒性/激活和T细胞受体信号程序的共表达模块包含偏头痛优先级基因,包括PTK2B,将免疫激活回路确定为遗传易感性的一个组成部分。空间投影进一步将风险一致性定位到颅面/脑膜界面和内脏平滑肌-黏膜结构。总之,这些分析描绘了偏头痛的系统性神经免疫-血管结构,并为机制和治疗后续研究提供了基于遗传的候选途径和靶点。