Association between single nucleotide polymorphisms in EPAS1 and PPARA genes and high altitude polycythemia in Chinese Tibetan population

• DOI: 10.3389/fgene.2025.1519108
• Publication Date: 2025-03-06T06:52:04Z
• Authors: Ziyi Chen; Zhaomei Dong; Rong Zeng; Mengna Xu; Yuanyuan Zhang; Qu Dan; Guangming Wang
• Keywords: Korean population

High altitude polycythemia (HAPC) is a disease with high morbidity and great harm in populations. It has been shown that Single Nucleotide Polymorphisms (SNPs) correlate the genetic basis of adaptation to plateau hypoxia Tibetan The EPAS1 PPARA genes are involved by encoding transcription factors populations at altitude. aim this study was investigate association gene locus polymorphisms susceptibility HAPC Chinese population. We included 78 patients 84 healthy controls, genotyped SNP loci (rs6735530, rs6756667, rs7583392, rs12467821) rs6520015 using TaqMan polymerase chain reaction. Logistic regression used analyze between these SNPs HAPC; interactions were also predicted multifactorial dimensionality reduction (MDR) analysis. found polymorphism not associated risk population; rs6735530, rs12467821 increased some models. Haplotype TCAGC decreases TTGAT increases rs7583392 complete linkage disequilibrium rs12467821. best prediction model rs6756667 unit point model, but P value greater than 0.05 all three models, which statistically significant. present findings suggest among population China, There an HAPC, there no significant correlation HAPC.