TET2 Variants in Japanese Patients With Pulmonary Arterial Hypertension

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 p...

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Detalles Bibliográficos
Autores principales: Hiraide, Takahiro, Suzuki, Hisato, Shinya, Yoshiki, Momoi, Mizuki, Inami, Takumi, Katsumata, Yoshinori, Fukuda, Keiichi, Kosaki, Kenjiro, Kataoka, Masaharu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9039542/
https://www.ncbi.nlm.nih.gov/pubmed/35495859
http://dx.doi.org/10.1016/j.cjco.2021.11.008
Descripción
Sumario: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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