Study on the Correlation between Polymorphism of EPAS1 Gene rs1868092 and High Altitude Polycythemia in Tibetan Population

Abstract

Abstract:

Objective： To explore the correlation between the polymorphism of rs1868092 in EPAS1 gene and high altitude polycythemia （HAPC） in Tibetan population. Methods： A TaqMan probe was used to examine of the EPAS1 gene SNP rs1868092 locus in 80 Tibetan HAPC patients and 85 healthy Tibetan analysis to investigate the correlation between the SNP rs1868092 locus and the occurrence of HAPC. Results：The frequency of EPAS1 gene rs1868092 genotype GG （11.250% vs. 2.353%， P=0.005， OR=7.375， 95%CI is 1.508-36.066） and allele G（33.125% vs. 16.471%， P<0.001， OR=2.512， 95%CI is 1.490-4.234） was significantly higher than that in the healthy subjects， with statistical significance. Under the dominant model，the frequency of GG+AG genotypes in HAPC patients（P=0.002， OR=2.774， 95%CI is 1.466-5.249） was significantly higher than that in healthy controls， with statistical significance. Conclusion：The G allele of the rs1868092 SNP locus of the EPAS1 gene is a risk factor for Tibetan population to develop HAPC.

Key words:

"> font-size:10.5pt, ">EPAS1 gene, Tibetan, high altitude polycythemia, gene polymorphisms

CLC Number:

Gao Wenyu, Zeng Rong, Xu Mengna, Zhang Yuanyuan.

Study on the Correlation between Polymorphism of EPAS1 Gene rs1868092 and High Altitude Polycythemia in Tibetan Population [J]. Journal of Dali University, 2023, 8(4): 39-42.

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