Expression quantitative trait loci in the developing human brain and their enrichment in neuropsychiatric disorders.

ABSTRACT:

Background

Genetic influences on gene expression in the human fetal brain plausibly impact upon a variety of postnatal brain-related traits, including susceptibility to neuropsychiatric disorders. However, to date, there have been no studies that have mapped genome-wide expression quantitative trait loci (eQTL) specifically in the human prenatal brain.

Results

We performed deep RNA sequencing and genome-wide genotyping on a unique collection of 120 human brains from the second trimester of gestation to provide the first eQTL dataset derived exclusively from the human fetal brain. We identify high confidence cis-acting eQTL at the individual transcript as well as whole gene level, including many mapping to a common inversion polymorphism on chromosome 17q21. Fetal brain eQTL

SUBMITTER: O'Brien HE 

PROVIDER: S-EPMC6231252 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature