ArticleScientific reports2020
Inclusion of endophenotypes in a standard GWAS facilitate a detailed mechanistic understanding of genetic elements that control blood lipid levels.
Article in Scientific reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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12 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Linking genomic and proteomic signatures to brain amyloid burden: insights from GR@ACE/DEGESCO.Functional & integrative genomics · 2025Pooled it
- Expanding the pig metabolomics QTL catalog.Genetics, selection, evolution : GSE · 2026Article
- Reducing antimicrobial resistance burden from livestock production by targeting pig gut health.Frontiers in veterinary science · 2026Article
- Single-variant genome-wide association study and regional heritability mapping of protein efficiency and performance traits in Large White pigs.Genetics, selection, evolution : GSE · 2025Article
- Clinical lipidomics reveals high individuality and sex specificity of circulatory lipid signatures: a prospective healthy population study.Journal of lipid research · 2025Article
- Improving genetic variant identification for quantitative traits using ensemble learning-based approaches.BMC genomics · 2025Article
- Connecting genomic and proteomic signatures of amyloid burden in the brain.medRxiv : the preprint server for health sciences · 2024Article
- Article
- Key co-expressed genes correlated with blood serum parameters of pigs fed with different fatty acid profile diets.Frontiers in genetics · 2024Article
- Genome-wide association studies of human and rat BMI converge on synapse, epigenome, and hormone signaling networks.Cell reports · 2023Article
- Genome-Wide Association Study of Alzheimer's Disease Brain Imaging Biomarkers and Neuropsychological Phenotypes in the European Medical Information Framework for Alzheimer's Disease Multimodal Biomarker Discovery Dataset.Frontiers in aging neuroscience · 2022Article
- Pig genome functional annotation enhances the biological interpretation of complex traits and human disease.Nature communications · 2021Article
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8 authors.
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Abstract
Dyslipidemia is the primary cause of cardiovascular disease, which is a serious human health problem in large parts of the world. Therefore, it is important to understand the genetic and molecular mechanisms that regulate blood levels of cholesterol and other lipids. Discovery of genetic elements in the regulatory machinery is often based on genome wide associations studies (GWAS) focused on end-point phenotypes such as total cholesterol level or a disease diagnosis. In the present study, we add endophenotypes, such as serum levels of intermediate metabolites in the cholesterol synthesis pathways, to a GWAS analysis and use the pig as an animal model. We do this to increase statistical power and to facilitate biological interpretation of results. Although the study population was limited to ~ 300 individuals, we identify two genome-wide significant associations and ten suggestive associations. Furthermore, we identify 28 tentative associations to loci previously associated with blood lipids or dyslipidemia associated diseases. The associations with endophenotypes may inspire future studies that can dissect the biological mechanisms underlying these previously identified associations and add a new level of understanding to previously identified associations.
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