Expanding the pig metabolomics QTL catalog
4 affiliations
- 1Depatment of Veterinary and Animal Sciences, University of Copenhagen, København, Denmark. [email protected].
- 2Depatment of Veterinary and Animal Sciences, University of Copenhagen, København, Denmark.
- 3Center for Quantitative Genetics and Genomics, Aarhus University, Aarhus, Denmark.
- 4Department of Plant Physiology, Umeå University, Umeå, Sweden.
Abstract
BackgroundUnderstanding the genetic regulation of metabolism is essential for improving animal health and productivity and for strengthening the use of pigs as translational models for human metabolic diseases. Metabolomics, when integrated with genomic data, provides a powerful framework for identifying genetic factors that influence intermediate molecular phenotypes closely linked to physiology. While large-scale metabolomics genome‑wide association studies (GWAS) have been extensively performed in humans, comparable studies in pigs remain limited. Among omics disciplines, metabolomics, the systematic study of metabolites central to physiology, represents the omics layer most closely linked to end-point phenotypes in mammals, such as health and production traits (e.g. growth rate). Metabolite levels are influenced by genetics, diet, and microbiome composition, with human studies showing high heritability and identifying numerous metabolite quantitative trait loci (mQTLs). While such findings have advanced our understanding of disease biology in humans, comparable studies in pigs remain limited.ResultsWe performed GWAS of the serum metabolome in 213 three‑way crossbred pigs [(Landrace × Yorkshire) × Duroc], analyzing 248 metabolites and 30,628 metabolite ratios. We identified 41 significant metabolite–variant associations, which were consolidated into 18 mQTLs based on linkage disequilibrium (LD). Several regions were associated with multiple, biochemically related metabolites, while others showed highly specific effects. Cross-species comparison with the human GWAS catalog revealed candidate genes within seven mQTLs. Through an integrative prioritization strategy, putative causal genes—predominantly enzymes and transporters—were identified for 14 of 18 mQTLs.ConclusionsOur results expand the catalog of genetic loci influencing serum metabolite variation in pigs and highlight both conserved and pig specific components of metabolic regulation. These findings provide a foundation for incorporating metabolomics into pig breeding programs and reinforce the value of pigs as a translational model for studying metabolite-associated traits and diseases in humans.
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BibTeX
@article{ibragimov2026expanding,
title = {{Expanding the pig metabolomics QTL catalog}},
author = {Emil Ibragimov and Malene Kjelin Morsing and Martin Peter Rydal and Zexi Cai and Hans Stenlund and Jens Peter Nielsen and Merete Fredholm and Peter Karlskov-Mortensen},
journal = {Genetics Selection Evolution},
year = {2026},
month = oct,
doi = {10.1186/s12711-026-01095-0},
url = {https://hal.science/hal-05838603v1},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - Expanding the pig metabolomics QTL catalog
AU - Emil Ibragimov
AU - Malene Kjelin Morsing
AU - Martin Peter Rydal
AU - Zexi Cai
AU - Hans Stenlund
AU - Jens Peter Nielsen
AU - Merete Fredholm
AU - Peter Karlskov-Mortensen
PY - 2026
DA - 2026/10/21
JO - Genetics Selection Evolution
DO - 10.1186/s12711-026-01095-0
UR - https://hal.science/hal-05838603v1
AB - BackgroundUnderstanding the genetic regulation of metabolism is essential for improving animal health and productivity and for strengthening the use of pigs as translational models for human metabolic diseases. Metabolomics, when integrated with genomic data, provides a powerful framework for identifying genetic factors that influence intermediate molecular phenotypes closely linked to physiology. While large-scale metabolomics genome‑wide association studies (GWAS) have been extensively performed in humans, comparable studies in pigs remain limited. Among omics disciplines, metabolomics, the systematic study of metabolites central to physiology, represents the omics layer most closely linked to end-point phenotypes in mammals, such as health and production traits (e.g. growth rate). Metabolite levels are influenced by genetics, diet, and microbiome composition, with human studies showing high heritability and identifying numerous metabolite quantitative trait loci (mQTLs). While such findings have advanced our understanding of disease biology in humans, comparable studies in pigs remain limited.ResultsWe performed GWAS of the serum metabolome in 213 three‑way crossbred pigs [(Landrace × Yorkshire) × Duroc], analyzing 248 metabolites and 30,628 metabolite ratios. We identified 41 significant metabolite–variant associations, which were consolidated into 18 mQTLs based on linkage disequilibrium (LD). Several regions were associated with multiple, biochemically related metabolites, while others showed highly specific effects. Cross-species comparison with the human GWAS catalog revealed candidate genes within seven mQTLs. Through an integrative prioritization strategy, putative causal genes—predominantly enzymes and transporters—were identified for 14 of 18 mQTLs.ConclusionsOur results expand the catalog of genetic loci influencing serum metabolite variation in pigs and highlight both conserved and pig specific components of metabolic regulation. These findings provide a foundation for incorporating metabolomics into pig breeding programs and reinforce the value of pigs as a translational model for studying metabolite-associated traits and diseases in humans.
SN - 0999-193X
SN - 1297-9686
ER -