Aug 3, 2018

Fine-mapping cis-regulatory variants in diverse human populations

BioRxiv : the Preprint Server for Biology
Ashley TehranchiHunter B Fraser


Genome-wide association studies (GWAS) are a powerful approach for connecting genotype to phenotype. Most GWAS hits are located in cis -regulatory regions, but the underlying causal variants and their molecular mechanisms remain unknown. To better understand human cis -regulatory variation, we mapped quantitative trait loci for chromatin accessibility (caQTLs)—a key step in cis -regulation—in 1000 individuals from 10 diverse populations. Most caQTLs were shared across populations, allowing us to leverage the genetic diversity to fine-map candidate causal regulatory variants, several thousand of which have been previously implicated in GWAS. In addition, many caQTLs that affect the expression of distal genes also alter the landscape of long-range chromosomal interactions, suggesting a mechanism for long-range expression QTLs. In sum, our results show that molecular QTL mapping integrated across diverse populations provides a high-resolution view of how worldwide human genetic variation affects chromatin accessibility, gene expression, and phenotype.

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Mentioned in this Paper

Genome-Wide Association Study
Quantitative Trait Loci
Genus Cis
Regulation of Biological Process
Human Genetics
Gene Expression
Distal Muscle
Drug Interactions
Chromatin Location

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