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

DOI
https://doi.org/10.1038/s41467-019-09198-7
Journal volume & issue
Vol. 10, no. 1
pp. 1 – 17

Abstract

Read online

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