Cell-Specific Gene Variants Drive Heritability of Complex Traits, Study Finds
Researchers used single-cell RNA-sequencing data from the OneK1K cohort of peripheral blood mononuclear cells to map expression quantitative trait loci in individual cell types. Trans eQTLs were mostly cell-type-specific at 60 percent, while cis eQTLs were mostly shared across cell types at 30 percent specific. The cell-type-specific eQTLs enriched for complex trait heritability. Cell-type-shared eQTLs did not show this enrichment. A second single-cell RNA-seq dataset replicated the findings across ancestries. The study appeared in Nature.
The findings help explain why known eQTLs have shown weak connections to complex traits. Cell-type-specific gene regulation appears to be the missing link between genetic variants and trait outcomes.
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