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

doi:10.1016/j.cjco.2021.11.008

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

研究成果: Article › 査読

抄録

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.

本文言語	English
ページ（範囲）	416-419
ページ数	4
ジャーナル	CJC Open
巻	4
号	4
DOI	https://doi.org/10.1016/j.cjco.2021.11.008
出版ステータス	Published - 2022 4月
外部発表	はい

ASJC Scopus subject areas

循環器および心血管医学

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10.1016/j.cjco.2021.11.008

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title = "TET2 Variants in Japanese Patients With Pulmonary Arterial Hypertension",

abstract = "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.",

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

note = "Funding Information: The establishment of the registry was partly supported by GlaxoSmithKline Japan under the investigator sponsored study (ISS) program. Publisher Copyright: {\textcopyright} 2021 The Authors",

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AU - Hiraide, Takahiro

AU - Suzuki, Hisato

AU - Shinya, Yoshiki

AU - Momoi, Mizuki

AU - Inami, Takumi

AU - Katsumata, Yoshinori

AU - Fukuda, Keiichi

AU - Kosaki, Kenjiro

AU - Kataoka, Masaharu

PY - 2022/4

Y1 - 2022/4

N2 - 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.

AB - 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.

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TET2 Variants in Japanese Patients With Pulmonary Arterial Hypertension

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