Gene expression in chronic high altitude diseases
Gene expression in chronic high altitude diseases
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DOI：
10.1089/ham.2007.1077
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发表时间：
2008-06-01
影响因子：
2.1
通讯作者：
Mejia, Olga
中科院分区：
文献类型：
--
作者：
Leon-Velarde, Fabiola;Mejia, Olga
慢性高山病（CMS）和高原肺动脉高压（HAPH）在世界不同山区已被充分描述为慢性高原（HA）疾病。本综述简要总结了已知受缺氧诱导因子 1 (HIF-1) 和/或缺氧调节的一些基因的可用数据，这些基因已在这些地区患有 CMS 和/或 HAPH 的人群中进行了研究。由低氧饱和度和缺氧通气反应和/或通气效率低下引起的红细胞过多是 CMS 的突出症状，右心室扩大、肺动脉高压和肺小动脉重塑是 HAPH 的标志。家族性状和遗传性研究表明，遗传因素可能对 CMS 和 HAPH 的发病机制有影响。尽管某些等位基因在不同的高海拔人群中更为普遍（夏尔巴人中 eNOS 多态性 Glu298Asp 的 G 等位基因和 HAPH 吉尔吉斯人中的 ACE I 等位基因）或不太普遍（HA 安第斯人中的 ACE D 等位基因），但迄今为止已发表的数据不足以对有关这些基因多态性在 CMS 或 HAPH 中的影响的任何假设进行严格检验。
Chronic mountain sickness (CMS) and high altitude pulmonary hypertension (HAPH) have been well described in different mountainous regions of the world as chronic high altitude (HA) diseases. This review briefly summarizes the available data from some genes known to be regulated by hypoxia-inducible factor 1 (HIF-1) and/or by hypoxia that have been studied in populations from these regions suffering from CMS and/or HAPH. Excessive erythrocytosis, caused by a lower oxygen saturation and hypoxic ventilatory response and/or ventilatory inefficiency, is the outstanding sign of CMS, and right ventricular enlargement, pulmonary hypertension, and remodeling of pulmonary arterioles are hallmarks of HAPH. Familial character and heritability studies have suggested that genetic factors could make a contribution to the pathogenesis of CMS and HAPH. Even though some alleles are more prevalent (G allele of eNOS polymorphism Glu298Asp in Sherpas and ACE I allele in HAPH Kyrgyz) or less prevalent (ACE D allele in HA Andeans) in the different high altitude populations, published data to date are insufficient for a rigorous test of any hypothesis regarding the implications of these gene polymorphims in CMS or HAPH.