ArticleMetabolites2022
Whole Exome Sequencing Enhanced Imputation Identifies 85 Metabolite Associations in the Alpine CHRIS Cohort.
Article in Metabolites, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 16 citations in OpenAlex.
- Analysis of whole genome sequencing and plasma metabolomics unveil genetic determinants and clinical implications for human health.Nature communications · 2026Article
- Metabolomics and Human Health: Progress, Insights, Challenges and the Concept of a Healthy Metabolome.Biomolecules · 2026Review
- Integration of metabolomic and genetic data reveals novel variants underpinning the human metabolome: the Coronary Artery Risk Development in Young Adults (CARDIA) study.medRxiv : the preprint server for health sciences · 2026Article
- HUBMet: an integrative database and analytical platform for human blood metabolites and metabolite-protein associations.Genome biology · 2025Article
- Clinical and Metabolic Signatures ofKidney international reports · 2025Article
- Extensive modulation of the circulating blood proteome by hormonal contraceptive use across two population studies.Communications medicine · 2025Article
- Cohort Profile: the Cooperative Health Research in South Tyrol study.International journal of epidemiology · 2025Article
- Coupling metabolomics and exome sequencing reveals graded effects of rare damaging heterozygous variants on gene function and human traits.Nature genetics · 2025Article
- MCCC2 is a novel mediator between mitochondria and telomere and functions as an oncogene in colorectal cancer.Cellular & molecular biology letters · 2023Article
- Advancing Precision Medicine in South Tyrol, Italy: A Public Health Development Proposal for a Bilingual, Autonomous Province.Journal of personalized medicine · 2023Article
- Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.Nature genetics · 2023Article
- VAMS-Based Blood Capillary Sampling for Mass Spectrometry-Based Human Metabolomics Studies.Metabolites · 2023Article
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Authors and funding
12 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Metabolites are intermediates or end products of biochemical processes involved in both health and disease. Here, we take advantage of the well-characterized Cooperative Health Research in South Tyrol (CHRIS) study to perform an exome-wide association study (ExWAS) on absolute concentrations of 175 metabolites in 3294 individuals. To increase power, we imputed the identified variants into an additional 2211 genotyped individuals of CHRIS. In the resulting dataset of 5505 individuals, we identified 85 single-variant genetic associations, of which 39 have not been reported previously. Fifteen associations emerged at ten variants with >5-fold enrichment in CHRIS compared to non-Finnish Europeans reported in the gnomAD database. For example, the CHRIS-enriched ETFDH stop gain variant p.Trp286Ter (rs1235904433-hexanoylcarnitine) and the MCCC2 stop lost variant p.Ter564GlnextTer3 (rs751970792-carnitine) have been found in patients with glutaric acidemia type II and 3-methylcrotonylglycinuria, respectively, but the loci have not been associated with the respective metabolites in a genome-wide association study (GWAS) previously. We further identified three gene-trait associations, where multiple rare variants contribute to the signal. These results not only provide further evidence for previously described associations, but also describe novel genes and mechanisms for diseases and disease-related traits.
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