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September 2011
ENGAGE Young Investigator

Ann-Kristin Petersen
PhD student, supervisor Dr. Christian Gieger, Institute of Genetic Epidemiology, Helmholtz Zentrum Munich, Germany

Ann-Kristin's interest is in understanding the genetics underlying metabolites. Beside GWAS of metabolic traits, Ann-Kristin is working on the inference of metabolite mediation for SNPs known to be associated with disease phenotypes. Especially, Ann-Kristin is interested in metabolites involved in the lipid metabolism. For her work on the metabolomics projects, Ann-Kristin has been awarded an ENGAGE grant for exchanges between the Institute of Genetic Epidemiology of the Helmholtz Zentrum in Munich and the Department of Human Genetics at the Wellcome Trust Sanger Institute. The key results from the collaborative metabolomics projects led by these two centers were published recently in Nature.


Human metabolic individuality in biomedical and pharmaceutical research

Genome-wide association studies (GWAS) have identified many risk loci for complex diseases, but effect sizes are typically small and information on the underlying biological processes is often lacking. Associations with metabolic traits as functional intermediates can overcome these problems and potentially inform individualized therapy. In this paper, we report a comprehensive analysis of genotype-dependent metabolic phenotypes using a GWAS with non-targeted metabolomics. We identified 37 genetic loci associated with blood metabolite concentrations, of which 25 show effect sizes that are unusually high for GWAS and account for 10–60% differences in metabolite levels per allele copy. Our associations provide new functional insights for many disease-related associations that have been reported in previous studies, including those for cardiovascular and kidney disorders, type 2 diabetes, cancer, gout, venous thromboembolism and Crohn’s disease. The study advances our knowledge of the genetic basis of metabolic individuality in humans and generates many new hypotheses for biomedical and pharmaceutical research.

Human metabolic individuality in biomedical and pharmaceutical research

Suhre K, Shin SY*, Petersen AK*, Mohney RP, Meredith D, Wägele B, Altmaier E; CARDIoGRAM, Deloukas P, Erdmann J, Grundberg E, Hammond CJ, de Angelis MH, Kastenmüller G, Köttgen A, Kronenberg F, Mangino M, Meisinger C, Meitinger T, Mewes HW, Milburn MV, Prehn C, Raffler J, Ried JS, Römisch-Margl W, Samani NJ, Small KS, Wichmann HE, Zhai G, Illig T, Spector TD, Adamski J, Soranzo N*, Gieger C*.

Nature. 2011 Aug 31;477(7362):54-60.


doi: 10.1038/nature10354.

*These authors contributed equally to this work.



September 2011
ENGAGE Young Investigator

So-Youn Shin

Postdoctoral Researcher, supervisor Dr. Nicole Soranzo, Wellcome Trust Sanger Institute, UK

So-Youn joined Dr. Nicole Soranzo‘ group at the Wellcome Trust Sanger Institute in Hinxton, UK. She was previously at the Stony Brook University in NY for her PhD in Applied Mathematics and Statistics. Her interest has been in the development of statistical methods for causal inference in multiple –omics datasets and the application of the rare variants analysis methods for sequencing data to various quantitative phenotypes for complex diseases. She is also involved in various project collaborations including the recent successful GWAS of metabolic traits supported by ENGAGE, the Wellcome Trust and many others.