Pharmacogenomics and Personalized Medicine (Jun 2023)

The Association of Methylation Level in the CYP39A1 Gene with High Altitude Pulmonary Edema in the Chinese Population

  • Wang P,
  • Lu H,
  • Rong H,
  • Wang Y,
  • Wang L,
  • He X,
  • Yuan D,
  • He Y,
  • Jin T

Journal volume & issue
Vol. Volume 16
pp. 617 – 628

Abstract

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Pingyi Wang,1– 3 Hongyan Lu,1– 3 Hao Rong,1– 3 Yuhe Wang,1– 4 Li Wang,1– 3 Xue He,1– 3 Dongya Yuan,1– 3 Yongjun He,1– 3 Tianbo Jin1– 3 1Key Laboratory of Molecular Mechanism and Intervention Research for Plateau Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi, People’s Republic of China; 2Key Laboratory of High Altitude Hypoxia Environment and Life Health, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi, People’s Republic of China; 3School of Basic Medical Sciences, Xizang Minzu University, Xianyang, Shaanxi, People’s Republic of China; 4Department of Clinical Laboratory, the Affiliated Hospital of Xizang Minzu University, Xianyang, Shaanxi, People’s Republic of ChinaCorrespondence: Tianbo Jin; Yongjun He, Tel +86-18681940990 ; +86-18691008772, Email [email protected]; [email protected]: High altitude pulmonary edema (HAPE) is still the most common fatal disease at high altitudes. DNA methylation proceeds with an important role in HAPE progression. This study was designed to investigate the association between CYP39A1 methylation and HAPE.Methods: Peripheral blood samples were enrolled from 106 participants (53 HAPE patients and 53 healthy subjects) to study the association of CYP39A1 methylation with HAPE. DNA methylation site in the promoter region of CYP39A1 was detected by Sequenom MassARRAY EpiTYPER platform.Results: Probability analysis showed that the methylation probabilities of CYP39A1_1_CpG_5 and CYP39A1_3_CpG_21 are significant differences between the cases and controls (p 32 years. Moreover, the diagnostic value of CYP39A1_3_CpG_21 (AUC = 0.712, p< 0.001) was significantly better than other CpG sites.Conclusion: The methylation level of CYP39A1 was associated with a risk of HAPE in the Chinese population, which provided new perspective for preventing and diagnosing of HAPE.Keywords: HAPE, DNA methylation, CYP39A1, CpG, the Chinese population

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