TET2 Variants in Japanese Patients With Pulmonary Arterial Hypertension

• DOI: 10.1016/j.cjco.2021.11.008
• Publication Date: 2021-11-27T07:35:21Z
• Authors: Takahiro Hiraide; Hisato Suzuki; Yoshiki Shinya; Mizuki Momoi; Takumi Inami; Yoshinori Katsumata; Keiichi Fukuda; Kenjiro Kosaki; Masaharu Kataoka
• Keywords: 0303 health sciences; 03 medical and health sciences; Case Report

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.