Genetic Associations with the Susceptibility to High-Altitude Pulmonary Edema in the Japanese Population.

IF 1.6 4区 医学 Q4 BIOPHYSICS
Yunden Droma, Masao Ota, Nobumitsu Kobayashi, Michiko Ito, Toshio Kobayashi, Masayuki Hanaoka
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引用次数: 0

Abstract

Yunden Droma, Masao Ota, Nobumitsu Kobayashi, Michiko Ito, Toshio Kobayashi, and Masayuki Hanaoka. Genetic Associations with the Susceptibility to High-Altitude Pulmonary Edema in the Japanese Population. High Alt Med Biol. 00:00-00, 2025.-High-altitude pulmonary edema (HAPE) is a life-threatening, noncardiogenic pulmonary condition that may occur in individuals rapidly ascending to altitudes higher than 2,500 m above sea level. Exaggerated hypoxia-induced pulmonary hypertension plays a critical role in its pathophysiological mechanism. In addition to environmental factors such as hypoxia and hypobaria at high altitudes, individual genetic predisposition significantly influences HAPE occurrence. Several candidate genes have been proposed based on the pathophysiology of HAPE, particularly involving the hypoxia-induced factor pathway and vasodilators/vasoconstrictors. Over the past two decades, we have investigated the associations between susceptibility to HAPE and these candidate genes, including genes EPAS1 (endothelial Per-ARNT-Sim [PAS] domain protein 1), EGLN1 (egl-9 family hypoxia inducible factor 1), eNOS (endothelial nitric oxide synthase), ACE (angiotensin-converting enzyme), and TIMP3 (tissue inhibitor of metalloproteinase 3) in the Japanese population. This review summarizes the major findings of these studies, shedding light on genetic associations with HAPE in the Japanese population.

日本人群高原肺水肿易感性的遗传关联
卓间运登、大田正雄、小林信光、伊藤美智子、小林俊夫、花冈正之。日本人群高原肺水肿易感性的遗传关联高Alt医学生物杂志,200,2025。高原肺水肿(HAPE)是一种危及生命的非心源性肺部疾病,可能发生在迅速上升到海拔2500米以上的个体中。过度缺氧引起的肺动脉高压在其病理生理机制中起着关键作用。除了环境因素,如缺氧和低气压,个体遗传易感性显著影响HAPE的发生。基于HAPE的病理生理学,已经提出了几个候选基因,特别是涉及缺氧诱导因子途径和血管舒张剂/血管收缩剂。在过去的二十年中,我们研究了HAPE易感性与这些候选基因之间的关系,包括EPAS1(内皮Per-ARNT-Sim [PAS]结构域蛋白1)、EGLN1 (egl-9家族缺氧诱导因子1)、eNOS(内皮一氧化氮合酶)、ACE(血管紧张素转换酶)和TIMP3(金属蛋白酶3组织抑制剂)等基因。本文综述了这些研究的主要发现,揭示了日本人群中HAPE的遗传关联。
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来源期刊
High altitude medicine & biology
High altitude medicine & biology 医学-公共卫生、环境卫生与职业卫生
CiteScore
3.80
自引率
9.50%
发文量
44
审稿时长
>12 weeks
期刊介绍: High Altitude Medicine & Biology is the only peer-reviewed journal covering the medical and biological issues that impact human life at high altitudes. The Journal delivers critical findings on the impact of high altitude on lung and heart disease, appetite and weight loss, pulmonary and cerebral edema, hypertension, dehydration, infertility, and other diseases. It covers the full spectrum of high altitude life sciences from pathology to human and animal ecology.
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