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Research Interests

In the Division of Genetic Epidemiology, we are interested in risk factors for and consequences of complex diseases. Complex diseases are thought to arise from a combination of environmental exposures and genetic susceptibility variants. We are working in three areas to gain insights into the physiology of complex traits and the pathophysiology of complex diseases:

 

  1. Understanding of disease and its progression over time in epidemiological studies

  2. Determination and interpretation of (epi-)genetic variation

  3. Quantification of environmental exposures

 

Our goal is to better understand how genetic variants interact with the environment to shape complex traits and diseases. We attempt to initiate experimental follow-up projects to understand the functions of these genes and how genetic variation leads to impaired function.

 

A special focus of our work is the investigation of the genetic underpinnings of kidney function in health and disease. Chronic kidney disease (CKD) is the most common form of kidney disease with a prevalence of 5-10% among adults in many countries. It is defined by a decreased ability of the kidneys to clear the blood, or by kidney damage. Not only can CKD progress to end-stage renal disease, but also increases the risk for cardiovascular morbidity and mortality. Other complex traits of special interest are hyperuricemia and gout, thyroid function and disease, and disorders of electrolyte and metabolite handling.

 

 

  1. Understanding of disease and its progression over time in epidemiological studies

 

To gain a better understanding of causes and consequences of CKD, we are participating in the conduct and analysis of epidemiological and clinical studies. We are one of nine study centers of the German Chronic Kidney Disease (GCKD) Study (http://www.gckd.de). This observational prospective study enrolled 5,217 patients with CKD and follows them for up to ten years. We are collecting detailed information about disease etiology and progression from each patient. In addition, we are working on data from 15,792 participants of the large ongoing observational Atherosclerosis Risk in Communities (ARIC) Study in the United States (https://www2.cscc.unc.edu/aric/). In the future, we will work on data from the German National Cohort Study (http://nako.de). Up to 200,000 participants are currently recruited into this study in Freiburg and 17 other German study sites.

 

  1. Determination and interpretation of (epi-)genetic variation

 

Genetic variation is assessed both through genotyping and sequencing. We are interested in the evaluation of candidate genes as well as in the conduct of genome-wide genetic screens. These screens evaluate millions of genetic variants and have the potential to discover genes not previously known to be associated with kidney function or disease.

The analyses of genome-wide genetic screens are mostly carried out in the setting of large international collaborations such as the CHARGE or CKDGen Consortia. Researchers in the CKDGen Consortium, which Dr. Köttgen is co-directing, have combined information from up to 150,000 individuals, resulting in the identification of >50 genomic loci in which variation associates with altered kidney function and CKD risk. Datasets from publications of the CKDGen Consortium can be found here (portal.uni-freiburg.de/imbi/GE/GE-code). In the future, we plan to extend our projects to also incorporate epigenetic information.

 

  1. Quantification of environmental exposures

 

We attempt to capture and quantify environmental exposures and their duration through standardized questionnaires about lifestyle factors and diet. We also collect information about medication intake and dose. In addition, we use methods such as metabolomics that can capture environmental and endogenous exposures from collected biomaterials in an unbiased and comprehensive manner.

 

 

Our research is supported by several national and international funding agencies (portal.uni-freiburg.de/imbi/GE/Projekte/funded_projects). We are part of the Collaborative Research Center (CRC) 1140 of the German Research Foundation at the University of Freiburg, Germany (http://www.sfb1140.uni-freiburg.de). This CRC aims to understand mechanisms underlying genetic kidney diseases and generates optimal synergies with the Division of Genetic Epidemiology’s research interests.

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