Brain expression quantitative trait locus and network analyses reveal downstream effects and putative drivers for brain-related diseases

Klein, Niek de; Tsai, Ellen; Vochteloo, Martijn; Baird, Denis; Huang, Yunfeng; Chen, Chia‐Yen; Dam, Sipko van; Oelen, Roy; Deelen, Patrick; Bakker, Olivier B.; Garwany, Omar El; Ouyang, Zhengyu; Marshall, Eric; Zavodszky, Maria I.; Rheenen, Wouter van; Bakker, Mark K.; Veldink, Jan H.; Gaunt, Tom R.; Runz, Heiko; Franke, Lude; Westra, Harm-Jan

doi:10.1038/s41588-023-01300-6

articleNature GeneticsFeb 23, 2023HYBRID OA

Brain expression quantitative trait locus and network analyses reveal downstream effects and putative drivers for brain-related diseases

NDNiek de Klein ETEllen Tsai MVMartijn Vochteloo DBDenis Baird YHYunfeng Huang

University Medical Center Groningen · University of Groningen · +8 more institutions

PubMed

Indexed incrossrefpubmed

Abstract

Identification of therapeutic targets from genome-wide association studies (GWAS) requires insights into downstream functional consequences. We harmonized 8,613 RNA-sequencing samples from 14 brain datasets to create the MetaBrain resource and performed cis- and trans-expression quantitative trait locus (eQTL) meta-analyses in multiple brain region- and ancestry-specific datasets (n ≤ 2,759). Many of the 16,169 cortex cis-eQTLs were tissue-dependent when compared with blood cis-eQTLs. We inferred brain cell types for 3,549 cis-eQTLs by interaction analysis. We prioritized 186 cis-eQTLs for 31 brain-related traits using Mendelian randomization and co-localization including 40 cis-eQTLs with an inferred cell…

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Topics

Keywords

Expression quantitative trait loci
Biology
Genome-wide association study
Quantitative trait locus
Mendelian randomization
Locus (genetics)
Genetics
Computational biology

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