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- Academic Editors
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Accurate gene expression is fundamental for sustaining life, enabling adaptive
responses to routine tasks and management of urgent cellular environments. RNA
polymerases (RNAP I, RNAP II, and RNAP III) and ribosomal proteins (RPs) play
pivotal roles in the precise synthesis of proteins from DNA sequences. In this
review, we briefly examined the structure and function of their constituent
proteins and explored to characterize these proteins and the genes encoding them,
particularly in terms of their expression quantitative trait loci (eQTL)
associated with complex human traits. We gathered a comprehensive set of 4007
genome-wide association study (GWAS) signal–eQTL pairs, aligning GWAS Catalog
signals with eQTLs across various tissues for the genes involved. These pairs
spanned 16 experimental factor ontology (EFO) parent terms defined in European
Bioinformatics Institute (EBI). A substantial majority (83.4%) of the pairs were
attributed to the genes encoding RPs, especially RPS26 (32.9%). This large
proportion was consistent across all tissues (15.5~81.9%),
underscoring its extensive impact on complex human traits. Notably, these
proportions of EFO terms differed significantly (p