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.

中文翻译：

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短串联重复变异对基因表达的影响。

短串联重复序列 (STR) 与人类的多种复杂性状有关。然而，迄今为止，关于 STR 对基因表达影响的全基因组研究在检测关联和提供对假定机制的见解方面的能力有限。在这里，我们利用来自基因型组织表达项目的 17 个组织的全基因组测序和表达数据来识别超过 28,000 个重复数与附近基因 (eSTR) 表达相关的 STR。我们使用精细映射来量化每个 eSTR 是因果关系的概率，并表征前 1,400 个精细映射的 eSTR。我们确定了数百个与已发表的全基因组关联研究信号相关的 eSTR，并将特定的 eSTR 与复杂性状相关联，包括身高、精神分裂症、炎症性肠病和智力。总体，