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Updated: Sep 21, 2025
Targeted DNA Methylation Analysis by Next-generation Sequencing
Published on: February 24, 2015
CYP2S1 gene methylation among High-altitude pulmonary edema
Tianbo Jin1, Hongyan Lu2, Zhanhao Zhang2
1Key Laboratory of Molecular Mechanism and Intervention Research for Plateau Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi 712082, China; School of Basic Medical Sciences, Xizang Minzu University, Xianyang, Shaanxi 712082, China; Engineering Research Center of Tibetan Medicine Detection Technology, Ministry of Education, China.
Background:
High altitude pulmonary edema (HAPE) is a fatal disease of fluid accumulation in the lungs resulting from acute exposure to high altitude and hypoxia. Now research has found that changes in DNA methylation are genetically related. We investigated the effects of hypermethylation and hypomethylation on HAPE.
Methods:
We conducted an analysis of methylation in Chinese HAPE patients (53 patients and 53 controls). EpiTYPER of the Sequenom MassARRAY platform was used to detect DNA methylation at 43 CpG sites in CYP2S1.
Results:
We used probability analysis to find that only five CPG sites were not methylated. CYP2S1_1_CpG_11, CYP2S1_2_CpG_11, CYP2S1_2_CpG_12, CYP2S1_2_CpG_13, and CYP2S1_3_CPG_11.12 in the case group were lower than those in the control group. Our results showed that, 12 CpG sites had different methylation levels in HAPE patients compared with healthy controls, and only CYP2S1_1_CPG_1.2.3 (OR = 2.920, 95 %Cl = 1.228-6.946, p = 0.015) had a higher risk of hypermethylation than hypomethylation. ROC curve analysis showed that the methylation level of CYP2S1 could effectively predict the risk of HAPE patients.
Conclusion:
Our results showed that several CpG sites in the promoter regions of CYP2S1 gene were abnormally methylated in HAPE patients.
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