Statistically and functionally fine-mapped blood eQTLs and pQTLs from 1,405 humans reveal distinct regulation patterns and disease relevance.

doi:10.1038/s41588-024-01896-3

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Statistically and functionally fine-mapped blood eQTLs and pQTLs from 1,405 humans reveal distinct regulation patterns and disease relevance.

Nature genetics - 1 Oct 2024

Wang Qingbo S, Hasegawa Takanori, Namkoong Ho, Saiki Ryunosuke, Edahiro Ryuya, Sonehara Kyuto, Tanaka Hiromu, Azekawa Shuhei, Chubachi Shotaro, Takahashi Yugo, Sakaue Saori, Namba Shinichi, Yamamoto Kenichi, Shiraishi Yuichi, Chiba Kenichi, Tanaka Hiroko, Makishima Hideki, Nannya Yasuhito, Zhang Zicong, Tsujikawa Rika, Koike Ryuji, Takano Tomomi, Ishii Makoto, Kimura Akinori, Inoue Fumitaka, Kanai Takanori, Fukunaga Koichi, Ogawa Seishi, Imoto Seiya, Miyano Satoru, Okada Yukinori

Abstract excerpt

Studying the genetic regulation of protein expression (through protein quantitative trait loci (pQTLs)) offers a deeper understanding of regulatory variants uncharacterized by mRNA expression regulation (expression QTLs (eQTLs)) studies. Here we report cis-eQTL and cis-pQTL statistical fine-mapping from 1,405 genotyped samples with blood mRNA and 2,932 plasma samples of protein expression, as part of the Japan...

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PMID: 39317738
DOI: 10.1038/s41588-024-01896-3
PMCID: PMC11525184

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

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