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Article

Identifying causal genetic variants for high-altitude adaptation through blood eQTL analysis in plateau populations.

Communications biology - 26 Aug 2026

Zhao Chenghui, Guan Jiawei, Liu Junhua, Zhang Zhe, Zhu Mingxiang, Fu Lei, Dai Anlin, Lin Kai, Zhang Luo, Wang Weidong, He Kunlun, Shi Jinlong

Abstract excerpt

A substantial number of genetic variants have been associated with high-altitude adaptation (HAA), yet most of them are located in non-coding genomic regions, leaving their specific functions and underlying mechanisms largely unknown. In this study, we analyze whole-genome and transcriptome sequencing data from a self-established cohort comprising 61 native highlanders (NHs) and 164 acclimatized newcomers (ANs),...

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Topics

Quantitative Trait Loci
Humans
Altitude
Genome-Wide Association Study
Acclimatization
Polymorphism, Single Nucleotide

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Genetic Variation

Altitude Sickness

Tibet

Source

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Identifiers

PMID: 42717232
DOI: 10.1038/s42003-026-10840-6
PMCID: PMC13558674

Genes

EXOC8

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