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通过甲基化特异性PCR检测血浆SFRP2高甲基化作为扩张型心肌病的诊断生物标志物。

Plasma SFRP2 hypermethylation as a diagnostic biomarker for dilated cardiomyopathy detected by methylation-specific PCR.

作者信息

Tang Zengyao, Huang Xin, Zheng Zeqi, Mei Hanying

机构信息

Internal Medicine-Cardiovascular Department, Jiujiang City Key Laboratory of Cell Therapy, Jiujiang No. 1 People's Hospital Jiujiang 332000, Jiangxi, China.

Internal Medicine-Cardiovascular Department, The First Hospital of Nanchang Nanchang 330000, Jiangxi, China.

出版信息

Am J Transl Res. 2025 Jul 15;17(7):5423-5432. doi: 10.62347/OZQW6493. eCollection 2025.

Abstract

OBJECTIVE

To investigate the clinical utility of plasma Secreted Frizzled-Related Protein 2 (SFRP2) gene hypermethylation as a non-invasive epigenetic biomarker for diagnosing Dilated cardiomyopathy (DCM) and stratifying cardiac function.

METHODS

A retrospective cohort of 482 participants (241 DCM patients and 241 healthy controls) was analyzed. DCM patients were further stratified by New York Heart Association (NYHA) class into better cardiac function (BCF; NYHA I-II) and poor cardiac function (PCF; NYHA III-IV) groups. Methylation-specific polymerase chain reaction (MSP) was used to assess SFRP2 methylation levels. Statistical analyses evaluated its diagnostic value, including receiver operating characteristic (ROC) curve analysis to determine sensitivity and specificity.

RESULTS

Plasma SFRP2 methylation levels were significantly higher in DCM patients than in controls (P < 0.001). ROC analysis revealed an area under the curve (AUC) of 0.942, indicating excellent diagnostic performance. Among DCM patients, the PCF group exhibited significantly higher SFRP2 methylation levels compared to the BCF group (P < 0.001). Additionally, SFRP2 methylation showed a strong positive correlation with worsening cardiac function (r = 0.786, P < 0.001).

CONCLUSION

Elevated plasma SFRP2 methylation levels in DCM patients, particularly those with poor cardiac function, demonstrate its high diagnostic accuracy and potential to reflect disease severity, supporting its use as a non-invasive clinical biomarker for DCM diagnosis and risk stratification.

摘要

目的

探讨血浆分泌型卷曲相关蛋白2(SFRP2)基因高甲基化作为诊断扩张型心肌病(DCM)及对心功能进行分层的非侵入性表观遗传生物标志物的临床应用价值。

方法

对482名参与者(241例DCM患者和241名健康对照)的回顾性队列进行分析。DCM患者根据纽约心脏协会(NYHA)分级进一步分为心功能较好(BCF;NYHA I-II级)和心功能较差(PCF;NYHA III-IV级)两组。采用甲基化特异性聚合酶链反应(MSP)评估SFRP2甲基化水平。统计分析评估其诊断价值,包括采用受试者工作特征(ROC)曲线分析来确定敏感性和特异性。

结果

DCM患者血浆SFRP2甲基化水平显著高于对照组(P < 0.001)。ROC分析显示曲线下面积(AUC)为0.942,表明具有优异的诊断性能。在DCM患者中,PCF组的SFRP2甲基化水平显著高于BCF组(P < 0.001)。此外,SFRP2甲基化与心功能恶化呈强正相关(r = 0.786,P < 0.001)。

结论

DCM患者,尤其是心功能较差患者的血浆SFRP2甲基化水平升高,表明其具有较高的诊断准确性及反映疾病严重程度的潜力,支持将其用作DCM诊断和风险分层的非侵入性临床生物标志物。

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