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Genome-wide identification of splicing QTLs in the human brain and their enrichment among schizophrenia-associated loci
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Genome-wide identification of splicing QTLs in the human brain and their enrichment among schizophrenia-associated loci
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Genome-wide identification of splicing QTLs in the human brain and their enrichment among schizophrenia-associated loci
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Journal Article
Genome-wide identification of splicing QTLs in the human brain and their enrichment among schizophrenia-associated loci
2017
Overview
Detailed analyses of transcriptome have revealed complexity in regulation of alternative splicing (AS). These AS events often undergo modulation by genetic variants. Here we analyse RNA-sequencing data of prefrontal cortex from 206 individuals in combination with their genotypes and identify
cis
-acting splicing quantitative trait loci (sQTLs) throughout the genome. These sQTLs are enriched among exonic and H3K4me3-marked regions. Moreover, we observe significant enrichment of sQTLs among disease-associated loci identified by GWAS, especially in schizophrenia risk loci. Closer examination of each schizophrenia-associated loci revealed four regions (each encompasses
NEK4
,
FXR1
,
SNAP91
or
APOPT1
), where the index SNP in GWAS is in strong linkage disequilibrium with sQTL SNP(s), suggesting dysregulation of AS as the underlying mechanism of the association signal. Our study provides an informative resource of sQTL SNPs in the human brain, which can facilitate understanding of the genetic architecture of complex brain disorders such as schizophrenia.
Alternative splicing of mRNAs occurs in tissue specific manners and may be modulated by genetic variations. Here, Takata and colleagues perform splicing quantitative trait loci analysis (sQTL) of human brain and show significant enrichment of sQTLs among neurological disease-associated loci.
Publisher
Nature Publishing Group UK,Nature Publishing Group,Nature Portfolio
Subject
/ 38/91
/ Brain
/ Genes
/ Genetic Predisposition to Disease
/ Genome-Wide Association Study
/ Genomes
/ Humanities and Social Sciences
/ Humans
/ Mutation
/ Polymorphism, Single Nucleotide - genetics
/ Protein Isoforms - metabolism
/ Quantitative Trait Loci - genetics
/ Regulatory Sequences, Nucleic Acid - genetics
/ Science
