A genetic analysis for patients with pulmonary arterial hypertension

Yu Yoshida, Keiko Uchida, Kazuki Kodo, Yoshiyuki Furutani, Toshio Nakanishi, Hiroyuki Yamagishi

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Pulmonary arterial hypertension (PAH) is a lethal disease [1]. Although mutations in BMPR2 and other genes have been reported, the genetic causes in large numbers of patients, especially with sporadic PAH, remain unknown. In 2013, Kerstjens-Frederikse et al. first reported TBX4 mutations in patients with PAH [2]. TBX4 is an essential transcription factor for the development of the hindlimbs and lungs [3]. In European countries, the frequency of TBX4 mutation was reported as 2.4-4.1% in adult-onset PAH [2, 4] and as 7.5-30% in child-onset PAH [2, 5] (Fig. 27.1). However, its frequency in Asian patients with PAH has yet to be studied.

Original languageEnglish
Title of host publicationMolecular Mechanism of Congenital Heart Disease and Pulmonary Hypertension
PublisherSpringer Singapore
Pages201-203
Number of pages3
ISBN (Electronic)9789811511851
ISBN (Print)9789811511844
DOIs
Publication statusPublished - 2020 Jan 1

Keywords

  • Genetic analysis
  • Pulmonary hypertension
  • T-box
  • TBX4

ASJC Scopus subject areas

  • Medicine(all)

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    Yoshida, Y., Uchida, K., Kodo, K., Furutani, Y., Nakanishi, T., & Yamagishi, H. (2020). A genetic analysis for patients with pulmonary arterial hypertension. In Molecular Mechanism of Congenital Heart Disease and Pulmonary Hypertension (pp. 201-203). Springer Singapore. https://doi.org/10.1007/978-981-15-1185-1_27