The impact of short tandem repeat variation on gene expression.

The impact of short tandem repeat variation on gene expression.

Publication date: Nov 01, 2019

Short tandem repeats (STRs) have been implicated in a variety of complex traits in humans. However, genome-wide studies of the effects of STRs on gene expression thus far have had limited power to detect associations and provide insights into putative mechanisms. Here, we leverage whole-genome sequencing and expression data for 17 tissues from the Genotype-Tissue Expression Project to identify more than 28,000 STRs for which repeat number is associated with expression of nearby genes (eSTRs). We use fine-mapping to quantify the probability that each eSTR is causal and characterize the top 1,400 fine-mapped eSTRs. We identify hundreds of eSTRs linked with published genome-wide association study signals and implicate specific eSTRs in complex traits, including height, schizophrenia, inflammatory bowel disease and intelligence. Overall, our results support the hypothesis that eSTRs contribute to a range of human phenotypes, and our data should serve as a valuable resource for future studies of complex traits.

Fotsing, S.F., Margoliash, J., Wang, C., Saini, S., Yanicky, R., Shleizer-Burko, S., Goren, A., and Gymrek, M. The impact of short tandem repeat variation on gene expression. 06748. 2019 Nat Genet.

Concepts Keywords
Bowel Schizophrenia
Genome Genotype
Genotype Genome
Intelligence Quantitative trait locus
Phenotypes STRS
Probability Microsatellite
Schizophrenia Complex traits
Sequencing Genetics
Short Tandem Repeat Branches of biology
Tandem Repeats


Type Source Name
disease DOID inflammatory bowel disease
disease MESH inflammatory bowel disease
disease DOID schizophrenia
disease MESH schizophrenia
pathway BSID Gene Expression

Original Article

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