Abstract
BackgroundHigh-altitude polycythemia (HAPC) is a chronic high-altitude disease that can lead to an increase in the production of red blood cells in the people who live in the plateau, a hypoxia environment, for a long time. The most frequent symptoms of HAPC include headache, dizziness, breathlessness, sleep disorders, and dilation of veins. Although chronic hypoxia is the main cause of HAPC, the fundamental pathophysiologic process and related molecular mechanisms responsible for its development remain largely unclear yet.Aim/methodsThis study aimed to explore the related hereditary factors of HAPC in the Chinese Han and Tibetan populations. A total of 140 patients (70 Han and 70 Tibetan) with HAPC and 60 healthy control subjects (30 Han and 30 Tibetan) were recruited for a case-control association study. To explore the genetic basis of HAPC, we investigated the association between HAPC and both phosphatidylinositol-4,5-bisphosphonate 3-kinase, catalytic subunit delta gene (PIK3CD) and collagen type IV α3 chain gene (COL4A3) in Chinese Han and Tibetan populations.Results/conclusionUsing the unconditional logistic regression analysis and the false discovery rate (FDR) calculation, we found that eight SNPs in PIK3CD and one SNP in COL4A3 were associated with HAPC in the Tibetan population. However, in the Han population, we did not find any significant association. Our study suggested that polymorphisms in the PIK3CD and COL4A3 were correlated with susceptibility to HAPC in the Tibetan population.
Highlights
High-altitude polycythemia (HAPC) is a chronic high-altitude disease, characterized by excessive erythrocytosis
Results/conclusion: Using the unconditional logistic regression analysis and the false discovery rate (FDR) calculation, we found that eight SNPs in Catalytic subunit delta gene (PIK3CD) and one SNP in Collagen type IV α3 chain gene (COL4A3) were associated with HAPC in the Tibetan population
Our study suggested that polymorphisms in the PIK3CD and COL4A3 were correlated with susceptibility to HAPC in the Tibetan population
Summary
High-altitude polycythemia (HAPC) is a chronic high-altitude disease, characterized by excessive erythrocytosis. More than 140 million people are living at high altitudes above 2500 m worldwide, majorly in the Andes, Ethiopian Highlands, and Qinghai-Tibet Plateau [2]. The Qinghai-Tibet Plateau is the highest plateau in the world, which covers a large area with low oxygen in natural environment, and millions of people are living and working in this region. It is well known that the body’s hemoglobin concentration increases due to the hypoxic environment of high altitude, and this response is crucial for people who adapt to live at high altitudes. High-altitude polycythemia (HAPC) is a chronic high-altitude disease that can lead to an increase in the production of red blood cells in the people who live in the plateau, a hypoxia environment, for a long time. Chronic hypoxia is the main cause of HAPC, the fundamental pathophysiologic process and related molecular mechanisms responsible for its development remain largely unclear yet
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