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Institute of Genetic Epidemiology

Welcome to the Institute of Genetic Epidemiology!

We are using data from epidemiological and clinical studies to gain insights into human physiology and the pathophysiology of complex traits and diseases, with a special focus on kidney and metabolic diseases. For this purpose, we combine genetic and epigenetic data with clinical information and biomarkers such as metabolites by applying and developing methods.

We often work in collaborative international research settings and seek for partners who use complementary methods to study similar diseases. Conversely, we are happy to support our research and clinical partners with our experience. In this way, we ultimately hope that our research will help to recognize, prevent and treat complex diseases.

The Institute of Genetic Epidemiology is part of the Department of Biometry, Epidemiology, and Medical Bioinformatics.


  • May 2021: Dr. Pascal Schlosser received MEDEP Fellow AwardPascal Schlosser receives MEDEP Fellow Award of the CRC 992 Medical Epigenetics. The award is endowed with 30000€ in funding, which will be used in his project on epigenome-based proteome-wide association studies of renal function in granulomatosis with polyangiitis. https://www.sfb992.uni-freiburg.de/news/2021-medep-fellow-award/
  • May 2021: New DFG-funded Research Grant “Discovery and Characterization of Risk Factors for Chronic Kidney Disease Progression, Cardiovascular Diseases and Death” (SE 2407/3-1)The German Research Foundation (DFG) will fund a project led by Peggy Sekula for the next two years. The aim of this project is to assess the associations and predictive ability of metabolite measurements (plasma and urine) of patients with chronic kidney disease with respect to prospective endpoints incl. mortality, renal failure and cardiovascular events. Data and measurements of participants enrolled into the GCKD study will be used for this purpose.
  • April 2021: New Member of the American Society for Clinical InvestigationAnna Köttgen was elected as a new Member of the prestigious American Society for Clinical Investigation https://www.the-asci.org/membership/new/2021
  • April 2021: Inaugural Lecture of PD Dr. Peggy SekulaAt 23rd of April, 2021 (4 pm), PD Dr. Peggy Sekula will provide her Inaugural Lecture with the title “Genetische Epidemiologie: Ein Einblick in die Methoden” [‘Genetic Epidemiology: Insights into the Methods’]. The presentation will be in German. Zoom: Meeting-ID 648 6276 2479, Kenncode NUBStWz2v
  • March 2021: New Publication "pgainsim: an R-package to assess the mode of inheritance for quantitative trait loci in GWAS" in Bioinformatics (first/last authorships)We developed an R-Package to assess the underlying mode of inheritance of genetic associations. https://doi.org/10.1093/bioinformatics/btab150
  • March 2021: New Publication "Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism" in Nature Communications (first/last authorships)By investigating the genetic contribution of exonic variants on urine metabolite levels in GCKD study participants, we have detected 128 significant associations involving 30 unique genes, 16 of which are known to underlie inborn errors of metabolism. In silico modeling of gene knockouts in a virtual metabolic human correctly predicts the observed direction of metabolite changes. Our study implicates candidate variants and genes for inborn errors of metabolism. https://www.nature.com/articles/s41467-020-20877-8
  • March 2021: Dr. Pascal Schlosser received the Gustav-Adolf-Lienert Award 2021Pascal Schlosser received the Gustav-Adolf-Lienert Award 2021. The prize is awarded by the International Biometric Society, German Region to decorate outstanding publications in biometry. It is given in recognition of our publication about Netboost, a network analysis approach for local dimensionality reduction, in IEEE Transactions on Computational Biology and Bioinformatics. https://ieeexplore.ieee.org/document/9084262
  • January 2021: PD Dr. Peggy Sekula was selected as guest editor at MetabolitesPD Dr. Peggy Sekula was selected as guest editor at Metabolites for the special issue ‘Metabolomics Approaches for the Understanding, Diagnosis and Monitoring of Chronic Kidney Diseases’. The Deadline for contributions is June 21st, 2021. Further information can be found here: https://www.mdpi.com/journal/metabolites/special_issues/Metabolo_Kidney
  • January 2021: Collaborative Research Center 1453 "Nephrogenetics" awardedGreat news: The University of Freiburg has been awarded the Collaborative Research Center 1453 "Nephrogenetics" by the German Research Foundation (Speaker: A. Köttgen; three funded projects in the Institute of Genetic Epidemiology). From 2021-2024, 15 research projects will use complementary approaches to turn genetic evidence from monogenic and complex kidney diseases into new insights about potentially modifiable molecules and pathways. A dedicated website is under construction.
  • December 2020: Anna Köttgen receives the State of Baden Württemberg’s "Landesforschungspreis"Anna Köttgen receives the State of Baden Württemberg’s "Landesforschungspreis" for basic science for 2020. The prestigious prize is awarded for outstanding scientific contributions. The awarded sum of 100,000 Euro gives the recipient the opportunity to realize a scientific project of their choice. https://www.pr.uni-freiburg.de/pm-en/online-magazine/research-and-discover/landesforschungspreis-for-anna-kottgen
  • November 2020: Dr. Fruzsina Kotsis completes specialty trainingCongratulations to Fruzsina Kotsis, who successfully completed her nephrology speciality training!
  • November 2020: Dr. Pascal Schlosser received the Eugen-Graetz Award 2020Pascal Schlosser received the Eugen-Graetz Award 2020. The prize is awarded by the University Freiburg to decorate outstanding publications in medicine, chemistry and pharmaceutics. It is given in recognition of our publication about the genetics of the metabolism in Nature Genetics. https://www.nature.com/articles/s41588-019-0567-8 https://uni-freiburg.de/universitaet/universitaet-im-ueberblick/herausragende-leistungen/freiburger-nachwuchsfoerderpreise/
  • June 2020: Our kidney cell type manuscript has been accepted by The Journal of the American Society of Nephrology (first/last authorships)Our manuscript "Integration of GWAS summary statistics and gene expression reveals target cell types underlying kidney function traits" has been accepted by The Journal of the American Society of Nephrology.
  • January 2020: New Publication "Genetic studies of urinary metabolites illuminate mechanisms of detoxification and excretion in humans" in Nature Genetics (first/last authorships)The human organism metabolizes thousands of substances originating from food or endogenous processes. We identified 90 genes and the corresponding substrates and/or products involved in metabolism, detoxification and excretion via the kidney - representing a four-fold increase of our existing knowledge of the underlying genetic underpinnings. https://www.nature.com/articles/s41588-019-0567-8 https://www.uniklinik-freiburg.de/presse/pressemitteilungen/detailansicht/1943-forscher-finden-90-detox-gene.html
  • December 2019: Pascal Schlosser receives Equip fellowshipPascal Schlosser receives the Medical Scientist fellowship from the EQUIP Programme for excellent post doctoral researches establishing their independence in translational research.
  • November 2019: Paula Benkowitz and Pascal Schlosser complete doctorateWith their successful defense Paula Benkowitz (Medical Faculty; Charakterisierung von Metaboliten des Tryptophan-Stoffwechsels in Urin und Plasma von Patienten mit chronischer Nierenerkrankung) and Pascal Schlosser (Faculty of Mathematics and Physics; Netboost: Statistical modeling strategies for high-dimensional data) completed their doctorates.
  • November 2019: Inga Steinbrenner receives Poster Prize at Research Day in FreiburgThe prize was awarded to Inga Steinbrenner at the annual Research Day of the Faculty of Medicine and Medical Center - University of Freiburg for her poster with the title „A metabolome-wide association study of kidney endpoints in CKD patients - Results from the GCKD study“. https://www.uni-freiburg.de/universitaet/veranstaltungskalender/477
  • October 2019: Coverage of our research in the newspaper “Welt am Sonntag”Our research on gout and urate genetics has been featured in the newspaper “Welt am Sonntag” on 20th October. https://www.welt.de/gesundheit/plus202180968/Gicht-Wen-die-Krankheit-trifft-und-warum.html
  • October 2019: New Publication "Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels" (PMID: 31578528) in Nature Genetics (co-first/last authorships)Gout is the most common form of inflammatory arthritis, in which elevated serum urate levels can lead to the painful deposition of urate crystals. In this publication, the team of the Institute of Genetic Epidemiology, along with scientists from 195 worldwide institutions, could show how strongly genetic predisposition influences gout risk and why elevated urate concentrations may often be accompanied by other metabolic disturbances.
  • September 2019: New Publication "Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria" (PMID: 31511532) in Nature Communications (co-first/last authorships)Increased levels of urinary protein excretion are associated with cardiovascular disease and are used to diagnose chronic kidney disease, which affects approximately 10% of adults worldwide. Yong Li, Matthias Wuttke, Anselm Hoppmann, Franziska Grundner-Culemann and Anna Köttgen from the Institute of Genetic Epidemiology therefore worked together with many international colleagues to identify the genetic underpinnings of the excretion of the main protein in urine, albumin, in order to better understand the underlying mechanisms. The team analyzed data from more than 500.000 individuals and found 68 genomic loci that were associated with the amount of urinary albumin. The responsible genes were characterized in detail, and some of them were validated in an animal model. The insights from this study represent a basis for the development of novel ways to reduce urinary albumin excretion.
  • August 2019: New Research Grant “Identification and Characterization of Novel Imaging Biomarkers of Kidney Function and Disease” within the DFG Priority Program “Radiomics: Next Generation of Biomedical Imaging (SPP 2177)”The German Research Foundation (DFG) will fund work led by Anna Köttgen and Elias Kellner (Department of Radiology, Freiburg) for the next three years. The overarching goal of the project is to identify and characterize novel magnetic resonance imaging (MRI)-based biomarkers of kidney function and disease in order to lay the foundation for improved diagnosis, prediction and etiological research of kidney diseases. It will be based on MRI images generated as part of the large, ongoing German National Cohort (GNC) study.
  • June 2019: New publication "A catalog of genetic loci associated with kidney function from analyses of a million individuals" in Nature Genetics (PMID: 31152163): First / corresponding authorships for Matthias Wuttke, Yong Li and Anna KöttgenIn the context of an international collaboration with over 100 partners for the identification of new risk genes for kidney diseases, we carried out a meta-analysis in CKDGen Consortium in which information from 1,046,070 participants was combined. We found and replicated 264 loci in the genome that contained genetic risk variants for reduced kidney function, estimated based on serum creatinine levels. Of these, 166 had not been found before. Out of the 264 identified genetic risk variants, 147 were also significantly correlated with another biomarker for impaired renal function (blood urea nitrogen), indicating their particular relevance for renal function. A genetic risk score based on the genetic risk variants was significantly associated with an increased risk for chronic, acute and glomerular kidney diseases in an independent study of 452,264 persons. Further bioinformatic characterization using gene expression data led to the prioritization of 11 genes as molecular targets for translational research. The experimental investigation of these genes will be the goal of follow-up studies.
  • May 2019: New R package available on BioconductorBioconductor 3.9 is available and with it the netboost package for dimension reduction and network analyses in high-dimensional omics applications. Netboost was developed in a joint venture with the Institute of Medical Biometry and programming was spearheaded by Jochen Knaus (Institute of Medical Biometry and Statistics) and Pascal Schlosser (Institute of Genetic Epidemiology).
  • May 2019: New Research Grant with the EU Marie Sklodowska Curie Training Network TRAINCKDis (Multidisciplinary Training in Chronic Kidney Disease: from genetic modifiers to drug discovery)From 2020 until 2024, the Institute will train a PhD candidate as part of this EU-funded training network. More Information can be found here and under Open Positions.
  • April 2019: Dr. Ulla Schultheiß to receive a 5 year BMBF grantBMBF grant application for a junior consortium within the framework of „e:Med - measures to establish systems medicine approaches” on CKDNapp (“A toolbox for monitoring and tailoring treatment of chronic kidney disease patients - a personalized systems medicine approach”) has been voted for funding (junior consortium: Ulla T. Schultheiss, Helena U. Zacharias, Michael Altenbuchinger, Johannes Raffler).
  • April 2019: Pascal Schlosser receives the Travel Award of the CHARGE St. Louis Meeting 2019Pascal Schlosser has received the Travel Award of the CHARGE (The Cohorts for Heart & Aging Research in Genomic Epidemiology) St. Louis Meeting, which will take place in St. Louis, US on June 27-28, 2019.
  • March 2019: DAGStat statistics under one umbrella in MunichContributions from our Institute (talk by Pascal Schlosser, and poster by Peggy Sekula).
  • October 2018: New Publication "Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation" (PMID: 30367059) in Nature CommunicationsThyroid dysfunction is an important public health problem, which affects 10% of the general population and increases the risk of cardiovascular morbidity and mortality. Yong Li, Ulla Schultheiss, Jiaojiao Jing and Anna Köttgen from the Institute together with many national and international collaborators participated in a large meta-analysis effort of genome-wide association studies for thyroid function and dysfunction. One hundred and nine independent genetic variants are found to be associated with these traits. Functional studies on selected signals identified a novel thyroid hormone transporter (SLC17A4) and a metabolizing enzyme (AADAT). These results provide new knowledge about thyroid hormone physiology and disease, opening new possibilities for therapeutic targets.
  • October 2018: ASN Kidney Week in San DiegoContributions from our Institute (talks by Matthias Wuttke, Anna Köttgen, and poster by Ulla Schultheiss).
  • October 2018: New Publication "Large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels" (PMID: 30315176) in Nature CommunicationsElevated serum urate levels can cause gout, a painful disease with suboptimal treatment. Yong Li and Anna Köttgen from the Institute together with many international collaborators report large-scale whole-exome sequencing association studies of serum urate and kidney function among up to 19,517 individuals. The group identified aggregate associations of low-frequency damaging variants in the urate transporters SLC22A12 and SLC2A9. Gout risk in rare SLC22A12 variant carriers is halved. Together with experimental transport studies, these findings provide new insights into the genetic architecture of serum urate, highlight molecular targets in SLC22A12 and SLC2A9 for lowering serum urate and preventing gout, and illustrating the therapeutic potential of the new URAT1-blocker lesinurad.
  • October 2018: New Publications in Nature GeneticsMembers of the Institute (M. Wuttke, A. Köttgen) participate in two recent large-scale genetic association studies on diabetes published in Nature Genetics (PMID: 30297969 and 29632382).
  • September 2018: DGfN in BerlinContribution from our Institute (talk by Pascal Schlosser).
  • July 2018: Pascal Schlosser receives the Travel Award of the CHARGE Baltimore Meeting 2018Pascal Schlosser has received the Travel Award of the CHARGE (The Cohorts for Heart & Aging Research in Genomic Epidemiology) Baltimore Meeting, which will take place in Baltimore, US on October 10-12, 2018.
  • March 2018: New Publication "Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms" (PMID: 29545352)We carried out genome-wide association studies of 139 serum and 41 urine metabolites and their pairwise ratios among 1168 patients with CKD. Of particular interest was an association between genetic variants in SLC7A9 and several urinary lysine-to-neutral amino acid ratios. The associations match the biologic function of SLC7A9 as a renal exchanger of cationic against neutral amino acids, and provide a direct human readout of its substrates in vivo.The study highlights the potential of linking genomics to metabolomics to generate insights into human renal physiology.
  • February 2018: Matthias Wuttke receives the Travel Award of the CHARGE Rotterdam Meeting 2018Matthias Wuttke has received the Travel Award of the CHARGE (The Cohorts for Heart & Aging Research in Genomic Epidemiology) Rotterdam Meeting, which will take place in Rotterdam, the Netherlands on April 18-19, 2018.
  • December 2017: New Publication "From Discovery to Translation: Characterization of C-Mannosyltryptophan and Pseudouridine as Markers of Kidney Function" (PMID: 29234020)Using a non-targeted metabolomics platform, we recently identified C-mannosyltryptophan and pseudouridine as non-traditional kidney function markers. On the way to clinical implementation, however, detailed knowledge about these two non-traditional markers in both healthy individuals and patients with Chronic Kidney Disease (CKD) is important. To address this gap we thus obtained absolute concentrations of C-mannosyltryptophan and pseudouridine by using a targeted approach with stable isotope-labeled internal standards. Furthermore, we systematically evaluated the agreement of non-targeted semi-quantitative – as obtained in the previous study – and targeted absolute measurements for these two markers to illustrate the use but also the limits of non-targeted semi-quantitative measurements, with special emphasis on composite measures of nephrological interest, the urinary metabolite-to-creatinine ratio and the fractional excretion.
  • November 2017: Publication about DNA methylation and kidney function at Nature CommunicationsWith the participation of Pascal Schlosser and Anna Köttgen from our Institute, a publication appeared in the Journal "Nature Communications" (PMID: 29097680). The study systematically examines the association of differential DNA methylation and kidney function among several thousand study participants. The authors find a relationship between the methylation of certain DNA segments and kidney function in humans. This relationship could be validated in kidney tissue of patients with kidney disease, where differential methylation was also associated with the amount of fibrosis, a clinically important readout of kidney disease. The results support a connection between epigenetic modifications and kidney function.
  • September 2017: Anna Köttgen is awarded CHARGE Golden Tiger AwardAnna Köttgen is awarded the Cohorts for Heart & Aging Research in Genomic Epidemiology (CHARGE) Consortium Golden Tiger Award for her Leadership of the Renal Working Group at the CHARGE Meeting in Boston, USA.
  • August 2017: Prof. Dr. Anna Köttgen to receive the Franz-Volhard Preis 2017Anna Köttgen, Director of the Institute of Genetic Epidemiology at the Medical Center - University of Freiburg, will receive the Franz-Volhard Award of the German Society of Nephrology (DGfN) in 2017. The prize is awarded by the DGfN to support and decorate outstanding scientists in nephrology research. The prize will be awarded to Dr. Köttgen at the Annual Meeting of the DGfN in September of 2017.


Univ.-Prof. Dr. med. Anna Köttgen
Master of Public Health (M.P.H.)

E-mail: anna.koettgen@uniklinik-freiburg.de
Phone: ++49 (0)761 270-78050

M.A. Julia Meyer-Taffoureau
Administration, Assistance

E-mail: julia.meyer-taffoureau@uniklinik-freiburg.de
Phone: ++49 (0)761 270-78051
Fax: ++49 (0)761 270-78040

Postal Address:
Hugstetter Straße 49
D 79106 Freiburg

Andrea Schmölders

Dipl. Vw. Andrea Schmölders

E-mail: andrea.schmoelders@uniklinik-freiburg.de
Phone: ++49 (0)761 270-78250
Fax: ++49 (0)761 270-78040