The impact of short tandem repeat variation on gene expression.
Nat Genet
; 51(11): 1652-1659, 2019 11.
Article
en En
| MEDLINE
| ID: mdl-31676866
ABSTRACT
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.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Genoma Humano
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Regulación de la Expresión Génica
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Repeticiones de Microsatélite
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Polimorfismo de Nucleótido Simple
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Sitios de Carácter Cuantitativo
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Estudio de Asociación del Genoma Completo
Tipo de estudio:
Prognostic_studies
Límite:
Humans
Idioma:
En
Año:
2019
Tipo del documento:
Article