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Large eQTL meta-analysis reveals differing patterns between cerebral cortical and cerebellar brain regions.

Publication ,  Journal Article
Sieberts, SK; Perumal, TM; Carrasquillo, MM; Allen, M; Reddy, JS; Hoffman, GE; Dang, KK; Calley, J; Ebert, PJ; Eddy, J; Wang, X; Greenwood, AK ...
Published in: Sci Data
October 12, 2020

The availability of high-quality RNA-sequencing and genotyping data of post-mortem brain collections from consortia such as CommonMind Consortium (CMC) and the Accelerating Medicines Partnership for Alzheimer's Disease (AMP-AD) Consortium enable the generation of a large-scale brain cis-eQTL meta-analysis. Here we generate cerebral cortical eQTL from 1433 samples available from four cohorts (identifying >4.1 million significant eQTL for >18,000 genes), as well as cerebellar eQTL from 261 samples (identifying 874,836 significant eQTL for >10,000 genes). We find substantially improved power in the meta-analysis over individual cohort analyses, particularly in comparison to the Genotype-Tissue Expression (GTEx) Project eQTL. Additionally, we observed differences in eQTL patterns between cerebral and cerebellar brain regions. We provide these brain eQTL as a resource for use by the research community. As a proof of principle for their utility, we apply a colocalization analysis to identify genes underlying the GWAS association peaks for schizophrenia and identify a potentially novel gene colocalization with lncRNA RP11-677M14.2 (posterior probability of colocalization 0.975).

Duke Scholars

Published In

Sci Data

DOI

EISSN

2052-4463

Publication Date

October 12, 2020

Volume

7

Issue

1

Start / End Page

340

Location

England

Related Subject Headings

  • Schizophrenia
  • RNA, Long Noncoding
  • Quantitative Trait Loci
  • Meta-Analysis as Topic
  • Humans
  • Genome-Wide Association Study
  • Gene Expression Profiling
  • Datasets as Topic
  • Cerebral Cortex
  • Cerebellar Cortex
 

Citation

APA
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Sieberts, S. K., Perumal, T. M., Carrasquillo, M. M., Allen, M., Reddy, J. S., Hoffman, G. E., … Mangravite, L. M. (2020). Large eQTL meta-analysis reveals differing patterns between cerebral cortical and cerebellar brain regions. Sci Data, 7(1), 340. https://doi.org/10.1038/s41597-020-00642-8

Published In

Sci Data

DOI

EISSN

2052-4463

Publication Date

October 12, 2020

Volume

7

Issue

1

Start / End Page

340

Location

England

Related Subject Headings

  • Schizophrenia
  • RNA, Long Noncoding
  • Quantitative Trait Loci
  • Meta-Analysis as Topic
  • Humans
  • Genome-Wide Association Study
  • Gene Expression Profiling
  • Datasets as Topic
  • Cerebral Cortex
  • Cerebellar Cortex