Functional Genomics of Cardiometabolic Disease in the Kilpeläinen Group

The Kilpeläinen Group investigates the mechanisms through which genetic variants influence the risk of cardiometabolic disease with a focus on mechanisms in adipose tissue.

Group photo of the Kilpeläinen Group
From left to right: Malene Revsbech Christiansen, Mario García Ureña, Cesar Cunha, Raquel Sanz Martinez, Boglár Gál, María José Romero Lado, Germán Carrasquilla, Iryna Khrystoforova, Tuomas Kilpeläinen, Pearlyn Toh, Jonathan Belanich, Xuye Jiang




Genome-wide association studies have advanced our understanding of cardiometabolic disease by identifying thousands of genetic risk variants However, a major challenge now is to understand the biological mechanisms through which these genetic variants increase cardiometabolic risk. For the vast majority of known genetic risk variants, the mechanisms of action remain unknown.

The Kilpeläinen group aims to convert genetic risk loci for cardiometabolic disease into functional understanding, with a focus on mechanisms in adipose tissue.  The research involves a team effort between computational and experimental scientists.


The research involves four main aims:

  1. Identifying shared pathways for cardiometabolic risk variants: the group uses large genome-wide association datasets to identify distinct phenotypic association patterns represented by multiple genetic risk variants and derives hypotheses on the cellular and physiological processes that these patterns represent. These hypotheses are then subjected to further computational and experimental investigation.
  2. Mapping the causal variants, genes, cell types, and cellular pathways through which the cardiometabolic disease variants act. The group utilizes molecular data repositories to functionally interpret the genetic associations, with colocalization between cardiometabolic disease associations and molecular trait associations (epigenomic, transcriptomic, proteomic) serving as an anchor for integrating layers of biological information.
  3. Relating the computationally derived functional interpretations to key functional readouts in human mesenchymal stem cell and adipocyte cell lines, using both traditional and high-throughput perturbation assays.
  4. Identifying new ways to treat cardiometabolic disease, by inhibiting the genetically defined mechanisms of action of disease risk variants in adipose tissue.








"Genetic studies of leptin concentrations implicate leptin in the regulation of early adiposity"
Published in Diabetes in 2020, this study finds that both coding and non-coding variants of the leptin gene are linked to childhood adiposity.

"Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity"
Published in Nature Communications in 2019, this study uses data from >250,000 adults to identify genetic variants for which the effects on lipid levels are modified by physical activity.

"Obesity, unfavorable lifestyle and genetic risk of type 2 diabetes"
Published in Diabetologia in 2020, this study finds that having normal body weight is crucial in the prevention of type 2 diabetes, regardless of genetic predisposition.


























Group Leader

Tuomas Oskari Kilpeläinen
Associate Professor

Phone: +45 3533 2247

Tuomas Oskari Kilpeläinen

Staff list

Name Title Phone E-mail
Belanich, Jonathan Robert Postdoc +4535326559 E-mail
Christiansen, Malene Revsbech Postdoc +4535322249 E-mail
García Ureña, Mario PhD Fellow   E-mail
Jiang, Xuye PhD Student +4535328945 E-mail
Jonsson, Anna Elisabet Research Consultant +4535337004 E-mail
Khrystoforova, Iryna Postdoc +4535328775 E-mail
Nazari, Maryam Guest Researcher   E-mail
Oskari Kilpeläinen, Tuomas Associate Professor +4535332247 E-mail
Romero Lado, María José Research Assistant   E-mail
Ronconi, Alice Master Student   E-mail
Sanz Martinez, Raquel PhD Fellow +4535330915 E-mail
Toh, Jia Ying Pearlyn Postdoc +4535327522 E-mail
Vogado Cunha, Cesar Augusto PhD Fellow +4535328836 E-mail