A catalog of transcriptome genetic regulation in a consanguineous Middle Eastern biobank.

In 1,882 Qatar Biobank participants, blood transcriptome QTL mapping cataloged ~7 million significant QTLs and resolved 29,953 high-confidence causal loci, including 1,379 novel eGenes.

• Why it matters: Underrepresented consanguineous populations are poorly characterized for how genetic variation regulates gene expression, limiting accurate genome interpretation and genomic medicine.
• What they did: They integrated blood RNA sequencing, whole-genome sequencing, and phenotypes across 45 traits to map QTLs for expression, isoforms, splicing, and allele-specific effects, then fine-mapped 29,953 causal loci.
• The result: Causal variants were depleted from runs of homozygosity, while recent autozygosity increased homozygous regulatory variant burden; colocalization linked 58 causal variants to 20 phenotypes and implicated novel genes including ATP6V0B and RQCD1.

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