Nature Communications (Mar 2019)
Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans
- Eevi Kaasinen,
- Outi Kuismin,
- Kristiina Rajamäki,
- Heikki Ristolainen,
- Mervi Aavikko,
- Johanna Kondelin,
- Silva Saarinen,
- Davide G. Berta,
- Riku Katainen,
- Elina A. M. Hirvonen,
- Auli Karhu,
- Aurora Taira,
- Tomas Tanskanen,
- Amjad Alkodsi,
- Minna Taipale,
- Ekaterina Morgunova,
- Kaarle Franssila,
- Rainer Lehtonen,
- Markus Mäkinen,
- Kristiina Aittomäki,
- Aarno Palotie,
- Mitja I. Kurki,
- Olli Pietiläinen,
- Morgane Hilpert,
- Elmo Saarentaus,
- Jaakko Niinimäki,
- Juhani Junttila,
- Kari Kaikkonen,
- Pia Vahteristo,
- Radek C. Skoda,
- Mikko R. J. Seppänen,
- Kari K. Eklund,
- Jussi Taipale,
- Outi Kilpivaara,
- Lauri A. Aaltonen
Affiliations
- Eevi Kaasinen
- Department of Medical and Clinical Genetics, University of Helsinki
- Outi Kuismin
- Department of Clinical Genetics, Oulu University Hospital
- Kristiina Rajamäki
- Department of Medical and Clinical Genetics, University of Helsinki
- Heikki Ristolainen
- Department of Medical and Clinical Genetics, University of Helsinki
- Mervi Aavikko
- Department of Medical and Clinical Genetics, University of Helsinki
- Johanna Kondelin
- Department of Medical and Clinical Genetics, University of Helsinki
- Silva Saarinen
- Department of Medical and Clinical Genetics, University of Helsinki
- Davide G. Berta
- Department of Medical and Clinical Genetics, University of Helsinki
- Riku Katainen
- Department of Medical and Clinical Genetics, University of Helsinki
- Elina A. M. Hirvonen
- Department of Medical and Clinical Genetics, University of Helsinki
- Auli Karhu
- Department of Medical and Clinical Genetics, University of Helsinki
- Aurora Taira
- Department of Medical and Clinical Genetics, University of Helsinki
- Tomas Tanskanen
- Department of Medical and Clinical Genetics, University of Helsinki
- Amjad Alkodsi
- Genome-Scale Biology, Research Programs Unit, University of Helsinki
- Minna Taipale
- Department of Biosciences and Nutrition, Karolinska Institutet
- Ekaterina Morgunova
- Department of Biosciences and Nutrition, Karolinska Institutet
- Kaarle Franssila
- HUSLAB, Helsinki University Hospital
- Rainer Lehtonen
- Genome-Scale Biology, Research Programs Unit, University of Helsinki
- Markus Mäkinen
- Cancer and Translational Medicine Research Unit, University of Oulu
- Kristiina Aittomäki
- Department of Clinical Genetics, Helsinki University Hospital
- Aarno Palotie
- Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki
- Mitja I. Kurki
- Analytic and Translational Genetics Unit, Department of Medicine, Department of Neurology and Department of Psychiatry, Massachusetts General Hospital
- Olli Pietiläinen
- The Stanley Center for Psychiatric Research and Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard
- Morgane Hilpert
- Department of Biomedicine, Experimental Hematology, University Hospital Basel and University of Basel
- Elmo Saarentaus
- Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki
- Jaakko Niinimäki
- Medical Research Center Oulu, Oulu University Hospital and University of Oulu
- Juhani Junttila
- Research Unit of Internal Medicine, Medical Research Center Oulu, Oulu University Hospital and University of Oulu
- Kari Kaikkonen
- Research Unit of Internal Medicine, Medical Research Center Oulu, Oulu University Hospital and University of Oulu
- Pia Vahteristo
- Department of Medical and Clinical Genetics, University of Helsinki
- Radek C. Skoda
- Department of Biomedicine, Experimental Hematology, University Hospital Basel and University of Basel
- Mikko R. J. Seppänen
- Adult Immunodeficiency Unit, Infectious Diseases, Inflammation Center, University of Helsinki and Helsinki University Hospital
- Kari K. Eklund
- Clinicum, University of Helsinki
- Jussi Taipale
- Genome-Scale Biology, Research Programs Unit, University of Helsinki
- Outi Kilpivaara
- Department of Medical and Clinical Genetics, University of Helsinki
- Lauri A. Aaltonen
- Department of Medical and Clinical Genetics, University of Helsinki
- DOI
- https://doi.org/10.1038/s41467-019-09198-7
- Journal volume & issue
-
Vol. 10,
no. 1
pp. 1 – 17
Abstract
Somatic heterozygous TET2 loss drives clonal hematopoiesis, which is linked to malignant cell degeneration and potentially cardiovascular disease. Here, the authors investigate the molecular impact of a germline TET2 mutation in a lymphoma family, finding elevated blood DNA methylation levels and no predisposition to atherosclerosis
