Cell-type-specific gene effects help explain complex trait heritability
Chen, Dahl and colleagues applied a variance component model to single-cell RNA sequencing data from the OneK1K cohort of peripheral blood mononuclear cells. Cell-type-specific eQTLs were enriched for complex trait heritability, while cell-type-shared ones were not, the authors report. Trans eQTLs were mostly cell-type-specific, 60 percent, while cis eQTLs ran the other way, only 30 percent specific. A second single-cell dataset replicated the findings and held up across ancestries.
Cell-type-specific regulatory variants often slip past population-wide eQTL studies. Geneticists studying disease risk could target these missed variants more precisely.
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