Abstract
High altitude polycythemia (HAPC) refers to the long-term living in the plateau of the hypoxia environment is not accustomed to cause red blood cell hyperplasia. The pathological changes are mainly the various organs and tissue congestion, blood stasis and hypoxia damage. Although chronic hypoxia is the main cause of HAPC, the related molecular mechanisms remain largely unclear. This study aims to explore the genetic basis of HAPC in the Chinese Han and Tibetan populations. We enrolled 100 patients (70 Han, 30 Tibetan) with HAPC and 100 healthy control subjects (30 Han, 70 Tibetan). To explore the hereditary basis of HAPC and investigate the association between EPHA2 with AGT and HAPC in Chinese Han and Tibetan populations. Using the Chi-squared test and analyses of genetic models, rs2291804, rs2291805, rs3768294, rs3754334, rs6603856, rs6669624, rs11260742, rs13375644 and rs10907223 in EPHA2, and rs699, rs4762 and rs5051 in AGT showed associations with reduced HAPC susceptibility in Han populations. Additionally, in Tibetan populations, rs2478523 in AGT showed an increased the risk of HAPC. Our study suggest that polymorphisms in the EPHA2 and AGT correlate with susceptibility to HAPC in Chinese Han and Tibetan populations.
Highlights
High altitude polycythemia (HAPC) is an increased number of circulating erythrocytes develop in high altitude dwellers to compensate for high altitude associated hypoxia
Our study suggest that polymorphisms in the EPHA2 and AGT correlate with susceptibility to HAPC in Chinese Han and Tibetan populations
Most people occur at an altitude of more than 3200 m area, but there are a few patients can occur www.impactjournals.com/oncotarget concentrations were significantly associated with single nucleotide polymorphisms (SNPs) of several genes in Tibetan populations, these results suggest that HAPC
Summary
HAPC is an increased number of circulating erythrocytes develop in high altitude dwellers to compensate for high altitude associated hypoxia. Most people occur at an altitude of more than 3200 m area, but there are a few patients can occur www.impactjournals.com/oncotarget concentrations were significantly associated with single nucleotide polymorphisms (SNPs) of several genes in Tibetan populations, these results suggest that HAPC presents obvious racial and significant individual differences in susceptibility. They can better adapt to the hypoxia environment, as indicated by lower hemoglobin levels, lower hematocrit, higher oxygen saturation and other characteristics to help them better adapt to the plateau hypoxia environment Despite these genetic adaptability, the Tibetan populations still develop into HAPC in plateau area [6]. We found several genes and loci which were located chromosome 1 These genes are significantly associated with the susceptibility to HAPC, especially in the hypoxia environment of the permanent high altitude natives and migrants
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
