Article
Genetic effects on chromatin accessibility uncover mechanisms of liver gene regulation and quantitative traits.
Genome research - 1 Jul 2025
Currin Kevin W, Perrin Hannah J, Pandey Gautam K, Alkhawaja Abdalla A, Vadlamudi Swarooparani, Musser Annie E, Etheridge Amy S, Broadaway K Alaine, Rosen Jonathan D, Varshney Arushi, Chaudhry Amarjit S, Gallins Paul J, Wright Fred A, Zhou Yi-Hui, Parker Stephen C J, Raffield Laura M, Schuetz Erin G, Innocenti Federico, Mohlke Karen L
Abstract excerpt
Chromatin accessibility quantitative trait locus (caQTL) studies have identified regulatory elements that underlie genetic effects on gene expression and metabolic traits. However, caQTL discovery has been limited by small sample sizes. Here, we map caQTLs in liver tissue from 138 human donors and identify caQTLs for 35,361 regulatory elements, including population-specific caQTLs driven by differences in allele...
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