Association between EPAS1 and ATP6V1E2 polymorphisms and susceptibility to high altitude polycythemia in Chinese Tibetan population

High altitude polycythemia (HAPC) is an important public health problem at high altitude, and genetic factors play a key role in hypoxia adaptation in Tibetan populations. The aim of this study was to investigate the association between EPAS1 and ATP6V1E2 gene locus polymorphisms and genetic susceptibility to HAPC in Chinese Tibetan population. This study included 78 HAPC patients and 85 healthy controls and genotyped the EPAS1 gene single nucleotide polymorphism loci (rs1868092, rs4953396, and rs4953354) and ATP6V1E2 rs896210. We analysed the association between EPAS1 and ATP6V1E2 genes and HAPC using logistic regression analysis Multifactorial dimensionality reduction, protein–protein interaction and KEGG pathway. This study found that ATP6V1E2 rs896210 and EPAS1 rs1868092, rs4953396, rs4953354 were significantly associated with genetic susceptibility to HAPC in the Chinese Tibetan population, and synergistic effects existed among these genetic loci. This provides new evidence for the genetic mechanism of high altitude adapted diseases in Tibetan populations, which is valuable for individualized risk assessment and exploration of potential therapeutic targets for HAPC at high altitude.