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Article

Genetic associations at regulatory phenotypes improve fine-mapping of causal variants for 12 immune-mediated diseases.

Nature genetics - 1 Mar 2022

Kundu Kousik, Tardaguila Manuel, Mann Alice L, Watt Stephen, Ponstingl Hannes, Vasquez Louella, Von Schiller Dominique, Morrell Nicholas W, Stegle Oliver, Pastinen Tomi, Sawcer Stephen J, Anderson Carl A, Walter Klaudia, Soranzo Nicole

Abstract excerpt

The resolution of causal genetic variants informs understanding of disease biology. We used regulatory quantitative trait loci (QTLs) from the BLUEPRINT, GTEx and eQTLGen projects to fine-map putative causal variants for 12 immune-mediated diseases. We identify 340 unique loci that colocalize with high posterior probability (≥98%) with regulatory QTLs and apply Bayesian frameworks to fine-map associations at each...

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PMID: 35288711
DOI: 10.1038/s41588-022-01025-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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