The value of ANGPTL2 gene promoter methylation in the diagnosis of myelodysplastic syndromes
Objective To investigate the methylation status of the angiopoietin-like protein 2(ANGPTL2)promoter region in myelodysplastic syndrome(MDS)and provide potential molecular markers for early diagnosis of MDS.Methods DNA and RNA were extracted from bone marrow samples of 55 MDS patients from Oct 2018 to Aug 2023,14 acute myeloid leukemia(AML)patients,and 28 controls(18 healthy donors,6 iron-deficiency anemia,and 4 megaloblastic anemia).Agena MassARRAY nucleic acid mass spectrometry was used to quantitatively detect methylation of the gene promoter region in the DNA samples,and real-time quantitative PCR was used to detect relative mRNA expression levels.The methylation level and mRNA expression of the ANGPTL2 gene were compared among different groups,and receiver operating characteristic(ROC)curves were used to evaluate the specificity and sensitivity of CpG unit diagnosis.Results The methylation rates of the ANGPTL2 gene promoter region were 10.0％(3.0％,26.0％)in the MDS group and 10.5％(1.0％,31.3％)in the AML group,which were both higher than that in the control group 6.0％(2.0％,15.0％).The relative mRNA expression of the ANGPTL2 gene was significantly higher in the control group than that in the MDS and AML groups.Further analysis showed that there were significant differences in the methylation rates of six CpG units in the MDS group and four CpG units in the AML group when compared with the control group,as well as three CpG units in the comparison between MDS and AML groups.CpG-20 had a sensitivity of 67.4％and 64.6％,and a specificity of 100.0％and 69.9％for MDS and AML diagnosis,respectively.The area under the ROC curve(AUC)was highest for CpG-20,with values of 0.8483(95％CI:0.7544-0.9421)and 0.9063(95％CI:0.7855-1.0000)for MDS and AML,respectively.Conclusion The ANGPTL2 gene promoter region is highly methylated in bone marrow samples of MDS patients,and has important value for molecular diagnosis and potential early identification of MDS.
Myelodysplastic syndromeMethylationAngiopoietin-like protein 2
万方数据
维普
