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A cross-tissue transcriptome-wide association study reveals novel susceptibility genes for migraine

dc.contributor.authorJianxiong Gui
dc.contributor.authorXiaoyue Yang
dc.contributor.authorChen Tan
dc.contributor.authorLingman Wang
dc.contributor.authorLinxue Meng
dc.contributor.authorZiyao Han
dc.contributor.authorJie Liu
dc.contributor.authorLi Jiang
dc.contributor.otherDepartment of Neurology, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, Children’s Hospital of Chongqing Medical University
dc.contributor.otherDepartment of Neurology, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, Children’s Hospital of Chongqing Medical University
dc.contributor.otherDepartment of Neurology, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, Children’s Hospital of Chongqing Medical University
dc.contributor.otherDepartment of Neurology, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, Children’s Hospital of Chongqing Medical University
dc.contributor.otherDepartment of Neurology, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, Children’s Hospital of Chongqing Medical University
dc.contributor.otherDepartment of Neurology, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, Children’s Hospital of Chongqing Medical University
dc.contributor.otherDepartment of Neurology, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, Children’s Hospital of Chongqing Medical University
dc.contributor.otherDepartment of Neurology, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, Children’s Hospital of Chongqing Medical University
dc.date.accessioned2024-06-09T11:27:28Z
dc.date.accessioned2025-10-08T08:06:58Z
dc.date.available2025-10-08T08:06:58Z
dc.date.issued2024-06
dc.identifier.urihttp://digilib.fisipol.ugm.ac.id/repo/handle/15717717/35610
dc.description.abstractAbstract Background Migraine is a common neurological disorder with a strong genetic component. Despite the identification of over 100 loci associated with migraine susceptibility through genome-wide association studies (GWAS), the underlying causative genes and biological mechanisms remain predominantly elusive. Methods The FinnGen R10 dataset, consisting of 333,711 subjects (20,908 cases and 312,803 controls), was utilized in conjunction with the Genotype-Tissue Expression Project (GTEx) v8 EQTls files to conduct cross-tissue transcriptome association studies (TWAS). Functional Summary-based Imputation (FUSION) was employed to validate these findings in single tissues. Additionally, candidate susceptibility genes were screened using Gene Analysis combined with Multi-marker Analysis of Genomic Annotation (MAGMA). Subsequent Mendelian randomization (MR) and colocalization analyses were conducted. Furthermore, GeneMANIA analysis was employed to enhance our understanding of the functional implications of these susceptibility genes. Results We identified a total of 19 susceptibility genes associated with migraine in the cross-tissue TWAS analysis. Two novel susceptibility genes, REV1 and SREBF2, were validated through both single tissue TWAS and MAGMA analysis. Mendelian randomization and colocalization analyses further confirmed these findings. REV1 may reduce the migraine risk by regulating DNA damage repair, while SREBF2 may increase the risk of migraine by regulating cholesterol metabolism. Conclusion Our study identified two novel genes whose predicted expression was associated with the risk of migraine, providing new insights into the genetic framework of migraine.
dc.language.isoEN
dc.publisherBMC
dc.subject.lccMedicine
dc.titleA cross-tissue transcriptome-wide association study reveals novel susceptibility genes for migraine
dc.typeArticle
dc.description.keywordsMigraine
dc.description.keywordsCross-tissue TWAS
dc.description.keywordsUTMOST
dc.description.keywordsColocalization
dc.description.keywordsMendelian randomization
dc.description.pages1-10
dc.description.doi10.1186/s10194-024-01802-6
dc.title.journalThe Journal of Headache and Pain
dc.identifier.e-issn1129-2377
dc.identifier.oai7cf7afab89604c61adfe6ca704ed3737
dc.journal.infoVolume 25, Issue 1


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