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Medical AI Inquiry: You was designed to assist in medical decision-making based on the provided user questions. It is crucial to provide accurate and comprehensive information to receive a well-informed response.  Labels: BACKGROUND, METHODS, RESULTS. Meshes: .
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Does 154 Expression Quantitative Trait Locus Analysis From Primary Immune Cells identify Novel Regulatory Effects Underlying Intracranial Aneurysms Susceptibility? Context: Genome-wide association studies (GWAS) have identified many common variants (single-nucleotide polymorphisms [SNPs]) associated with intracranial aneurysms (IAs), but the causal genes, pathways, and biological mechanism remains unknown. Given that pathogenic processes are cell specific, and most association signals lie in noncoding regions, integrating genetic variations associated with gene expression changes from relevant primary cells may be important for overcoming these challenges. We have performed a genome-wide expression and splicing quantitative trait locus (eQTL and sQTL) study of highly purified T cells and CD14+CD16- monocytes from gene expression studies of 461 healthy individuals of European, African American, and East Asian ancestry. Among genetically mapped traits, we observed that susceptibility alleles for IA affect gene expression and splicing of nearby genes in both monocytes and T lymphocytes. Specifically, we identified 7 IA-associated SNPs that are cis-eQTLs in monocyte and T cells. Using a Bayesian colocalization method, we demonstrated that at least 5 of these are likely to be truly driven by regulatory effects and, thus, likely to be the candidate causal genes (NT5C2, BET1L, FGD6, ANKRD44, and SF3B1).
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Overall, this study identifies many novel cis-eQTLs that functionally implicate an immune cell type in genetic susceptibility to IAs illustrating the complexity of understanding the cell-specific functional consequences of genetic susceptibility to human disease. Future fine-mapping and functional studies will explore the mechanism by which these cis-eQTLs are associated with IA pathology. Final Decision: yes