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Genetics of gene regulation in disease

Research group

Transcription factors regulate their target genes not only upon specific stimuli, but also through binding to specific DNA sequences. Genetic variation that occurs on those binding sequences may disturb target gene expression. It is also a potential source for the “missing variation” in polygenic diseases that have a clear genetic component in their etiology, such as type 2 diabetes or obesity.

We focus on the identification and molecular characterization of human genetic variation that alters the gene regulatory capacity of transcription factors and contributes to diseases with identified genetic component like type 2 diabetes. Our research utilizes a combination of mouse genetics and detailed genome-wide mapping of e.g. gene expression and chromatin activities at tissue and single-cell levels, with an aim to extrapolate the main findings to human metabolic genetics through conserved metabolic regulatory cascades.

The identification and mechanistic characterization of new, truly causal human genetic variants in complex diseases offer tools for improved disease prediction, subtyping and personalized medicine solutions.

We also collaborate widely with research groups who need bioinformatic expertise.

Funding
Academy of Finland, Diabetes Research Foundation

Homepage of research group

Keywords

chromatin chromatin interactions epigenetics gene expression gene regulation genetic variants genetics genomics regulatory interactions transcription regulation

Group members - UEF

Cooperation partners

  • Luke Norton, PhD University of Texas Health San Antonio
  • Minna Kaikkonen-Määttä, PhD University of Eastern Finland, A.I.Virtanen Institute
  • Jaana Hartikainen, PhD University of Eastern Finland, Clinical Pathology and Forensic Medicine
  • Arto Mannermaa, PhD University of Eastern Finland, Clinical Pathology and Forensic Medicine
  • Markku Laakso, MD, PhD Itä-Suomen yliopisto, Sisätaudit
  • Jussi Pihlajamäki, MD, PhD University of Eastern Finland, Institute of Public Health and Clinical Nutrition
  • Anna-Liisa Levonen, MD, PhD University of Eastern Finland, A.I.Virtanen Institute

Publications by the research group members