ArticleHGG advances2022
Adaptive eQTLs reveal the evolutionary impacts of pleiotropy and tissue-specificity while contributing to health and disease.
Article in HGG advances, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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18 citing papers in PubMed, 26 citations in OpenAlex.
- Genetic variation in antidiabetic drug targets: associations with Parkinson's disease risk and age at onset.NPJ Parkinson's disease · 2026Article
- Integrating selective signatures and Cis-eQTLs to prioritize candidate genes potentially related to milk production traits in dual-purpose cattle.Frontiers in veterinary science · 2026Article
- Genome-wide adaptive selection and functional annotation of regulatory variation in the Yangxin pig.BMC genomics · 2025Article
- Genetic determinants of monocyte splicing are enriched for disease susceptibility loci.Nature communications · 2025Article
- Integrative Genomics Refines Tissues, Candidate Genes and Putative Regulatory Links Involved in the Humic Adaptation of Keystone Freshwater Fish.Molecular ecology · 2025Article
- Gravitropic Gene Expression Divergence Associated With Adaptation to Contrasting Environments in an Australian Wildflower.Molecular ecology · 2025Article
- Evolutionarily new genes in humans with disease phenotypes reveal functional enrichment patterns shaped by adaptive innovation and sexual selection.Genome research · 2025Article
- Insights into trait-association of selection signatures and adaptive eQTL in indigenous African cattle.BMC genomics · 2024Article
- Evolutionarily new genes in humans with disease phenotypes reveal functional enrichment patterns shaped by adaptive innovation and sexual selection.bioRxiv : the preprint server for biology · 2024Article
- Mechanisms of transcriptional regulation inProceedings. Biological sciences · 2024Article
- Molecular quantitative trait loci in reproductive tissues impact male fertility in cattle.Nature communications · 2024Article
- Mechanisms of transcriptional regulation inbioRxiv : the preprint server for biology · 2023Article
- Evolutionarily new genes in humans with disease phenotypes reveal functional enrichment patterns shaped by adaptive innovation and sexual selection.Research square · 2023Article
- Evolutionary Genetics and Admixture in African Populations.Genome biology and evolution · 2023Review
- Exploration of genotype-by-environment interactions affecting gene expression responses in porcine immune cells.Frontiers in genetics · 2023Article
- Purifying selection on noncoding deletions of human regulatory loci detected using their cellular pleiotropy.Genome research · 2021Article
- Comprehensive analyses of 723 transcriptomes enhance genetic and biological interpretations for complex traits in cattle.Genome research · 2020Article
- Population-Specific Genetic and Expression Differentiation in Europeans.Genome biology and evolution · 2020Article
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2 authors at 1 institution in 1 country.
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Abstract
Large numbers of expression quantitative trait loci (eQTLs) have recently been identified in humans, and many of these regulatory variants have large allele frequency differences between populations. Here, we conducted genome-wide scans of selection to identify adaptive eQTLs (i.e., eQTLs with large population branch statistics). We then tested if tissue pleiotropy affects whether eQTLs are more or less likely to be adaptive and identified tissues that have been key targets of positive selection during the last 100,000 years. Top adaptive eQTL outliers include rs1043809, rs66899053, and rs2814778 (a SNP that is associated with malaria resistance). We found that effect sizes of eQTLs were negatively correlated with population branch statistics and that adaptive eQTLs affect two-thirds as many tissues as do non-adaptive eQTLs. Because the tissue breadth of an eQTL can be viewed as a measure of pleiotropy, these results imply that pleiotropy inhibits adaptation. The proportion of eQTLs that are adaptive varies by tissue, and we found that eQTLs that regulate expression in testis, thyroid, blood, or sun-exposed skin are enriched for signatures of positive selection. By contrast, eQTLs that regulate expression in the cerebrum or female-specific tissues have a relative lack of adaptive outliers. Scans of selections also reveal that many adaptive eQTLs are closely linked to disease-associated loci. Taken together, our results indicate that eQTLs have played an important role in recent human evolution.
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