TET2 Variants in Japanese Patients With Pulmonary Arterial Hypertension

Takahiro Hiraide, Hisato Suzuki, Yoshiki Shinya, Mizuki Momoi, Takumi Inami, Yoshinori Katsumata, Keiichi Fukuda, Kenjiro Kosaki, Masaharu Kataoka

Research output: Contribution to journalArticlepeer-review


Recent studies have illuminated the importance of tet-methylcytosine-dioxygenase-2 (TET2) in pulmonary arterial hypertension (PAH). We aimed to clarify the frequency of TET2 variants in Japanese PAH patients. Among whole-exome sequencing of 145 Japanese patients with idiopathic or heritable PAH, 3 patients (2.1%) had a germline heterozygous missense variant in TET2 (c.3116C > T, p.Ser1039Leu). The allele frequency is 0.15% in the gnomAD database, and 0.2% among 3554 in the general Japanese population. These 3 patients needed combination therapy including continuous prostacyclin infusion. Our study identified a novel TET2 variant, and TET2 may have effects on the onset and/or disease progression of PAH.

Original languageEnglish
Pages (from-to)416-419
Number of pages4
JournalCJC Open
Issue number4
Publication statusPublished - 2022 Apr
Externally publishedYes

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine


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