Abstract
High altitude polycythemia (HAPC) is a common chronic disease at high altitude, which is characterized by excessive erythrocytosis (females, hemoglobin ≥ 190 g/L; males, hemoglobin ≥ 210 g/L). It is the most common disease in chronic mountain sickness casued primarily by persistent arterial hypoxia and ventilatory impairment. However, the disease is still unmanageable and related molecular mechanisms remain largely unclear. This study aims to explore the genetic basis of HAPC in the Chinese Han and Tibetan populations. Subjects were screened for HAPC using the latest approved diagnostic criteria. To explore the hereditary basis of HAPC and investigate the association between three genes (EPAS1, ITGA6, ERBB4) and HAPC in Chinese Han and Tibetan populations. We enrolled 100 patients (70 Han, 30 Tibetan) with HAPC and 100 healthy control subjects (30 Han, 70 Tibetan). Subjects were screened for HAPC using the latest approved diagnostic criteria combined with excessive erythrocytosis and clinical symptoms. Analysis of variance was used to evaluate the impact of polymorphism on HAPC based on genetic variation. The Chi-squared test and analyses of genetic models, rs75591953 and rs75984373 in EPAS1, rs6744873 in ITGA6, rs17335043 in ERBB4 showed associations with reduced HAPC susceptibility in Han populations. Additionally, in Tibetan populations, rs3749148 in ITGA6, rs934607 and rs141267844 in ERBB4 showed a reduced risk of HAPC, whereas rs6710946 in ERBB4 increased the risk of HAPC. Our study suggest that the polymorphisms in the EPAS1, ITGA6 and ERBB4 correlate with susceptibility to HAPC.
Highlights
A French doctor noted for the first time that the number of red blood cells (RBCs) increased in the plateau in 1980 [1], this is the first report of High altitude polycythemia (HAPC)
Subjects were screened for HAPC using the latest approved diagnostic criteria combined with excessive erythrocytosis and clinical symptoms
A French doctor noted for the first time that the number of red blood cells (RBCs) increased in the plateau in 1980 [1], this is the first report of HAPC
Summary
A French doctor noted for the first time that the number of red blood cells (RBCs) increased in the plateau in 1980 [1], this is the first report of HAPC. Hemoglobin concentration increases within a certain range due to hypoxia environment when low-altitude populations migrate to plateau region, and this response is crucial for them to acclimatize the high altitude. Han people who live www.impactjournals.com/oncotarget adapt to high altitude and hypoxic conditions. A part of Tibetans who showed high level of hemoglobin may develop into HAPC. Excessive erythrocytosis leads to significant increases in blood viscosity and microcirculation disturbance, which can lead to tissue hypoxia, stroke, myocardial infarction [5, 6]. Altitude polycythemia as reported earlier may be indicative of pathological response rather than an adaptive biological process.
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