期刊
NATURE GENETICS
卷 48, 期 1, 页码 22-+出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.3461
关键词
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资金
- National Defense Science and Engineering Graduate Fellowship
- National Institute of Justice (NIJ) [2014-DN-BX-K089]
- US National Institutes of Health (NIH) [1U01HG007037, R01MH084703, R01HG006399, HG006696, DA033660, MH097018]
- March of Dimes Foundation [6-FY13-92]
- NATIONAL HUMAN GENOME RESEARCH INSTITUTE [U01HG007037, R01HG006399, R01HG006696] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF MENTAL HEALTH [R01MH084703, R01MH097018] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE ON DRUG ABUSE [R01DA033660] Funding Source: NIH RePORTER
- OFFICE OF THE DIRECTOR, NATIONAL INSTITUTES OF HEALTH [S10OD018522] Funding Source: NIH RePORTER
The contribution of repetitive elements to quantitative human traits is largely unknown. Here we report a genome-wide survey of the contribution of short tandem repeats (STRs), which constitute one of the most polymorphic and abundant repeat classes, to gene expression in humans. Our survey identified 2,060 significant expression STRs (eSTRs). These eSTRs were replicable in orthogonal populations and expression assays. We used variance partitioning to disentangle the contribution of eSTRs from that of linked SNPs and indels and found that eSTRs contribute 10-15% of the cis heritability mediated by all common variants. Further functional genomic analyses showed that eSTRs are enriched in conserved regions, colocalize with regulatory elements and may modulate certain histone modifications. By analyzing known genome-wide association study (GWAS) signals and searching for new associations in 1,685 whole genomes from deeply phenotyped individuals, we found that eSTRs are enriched in various clinically relevant conditions. These results highlight the contribution of STRs to the genetic architecture of quantitative human traits.
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