中国汉族扩张型心肌病易感性的遗传风险评分。

IF 0.9 4区 医学
Texas Heart Institute Journal Pub Date : 2025-05-16 eCollection Date: 2025-01-01 DOI:10.14503/THIJ-24-8525
Jianjun Lan, Lin Wang, Guoyuan Qiu, Shihai Wang, Chao Yang, Mengnian Ran, Hongyu Li, Shiyang Li
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引用次数: 0

摘要

背景:扩张型心肌病(DCM)是最常见的心肌病类型之一。目前的研究构建了一个拟议的遗传风险评分,并评估其作为个体DCM易感性预测工具的潜力。方法:共纳入来自研究机构的1000例特发性DCM患者和828例对照受试者。从6颗DCM心脏和7颗对照心脏(来自Chen等人的研究)的串联质谱分析中选择前25个上调和下调基因,使用全外显子组测序数据进行logistic分析。为构建遗传风险评分准备具有统计学意义的变异。采用受试者工作特征曲线分析评估遗传风险评分和DCM风险复合变量的预测能力。结果:共鉴定出5个与DCM易感性相关的变异,并制定遗传风险评分。至少6.4分与DCM风险增加的相关性更强(优势比,2.4;P < 0.001),低于6.4分。在调整了年龄、性别、高血压、糖尿病和吸烟等传统危险因素后,多因素分析的统计学意义仍然明显(优势比2.54;P < 0.001)。与低于6.4分的个体相比,得分在6.4分以上的个体左室射血分数降低,左室舒张末期内径增加(P < 0.001)。年龄、性别、高血压史、糖尿病史和吸烟状况的分层对遗传风险评分与DCM风险之间的关联没有实质性影响。遗传风险评分的判别能力极好,C统计量为0.72。结论:遗传风险评分由5个变异组成,可有效识别研究人群中DCM高危个体,有助于临床实施早期预防策略。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A Proposed Genetic Risk Score for Dilated Cardiomyopathy Susceptibility in the Chinese Han Population.

Background: Dilated cardiomyopathy (DCM) is one of the most common types of cardiomyopathies. The current study constructs a proposed genetic risk score and assesses its potential as a predictive tool for individual DCM susceptibility.

Methods: A total of 1,000 patients with idiopathic DCM and 828 control participants from the study institution were enrolled. The top 25 up-regulated and down-regulated genes from tandem mass spectrometry analysis of 6 hearts with DCM and 7 control hearts (from a study by Chen et al) were selected for logistic analysis using whole-exome sequencing data. Statistically significant variants were prepared for genetic risk score construction. The predictive power of the genetic risk score and a composite variable for DCM risk were evaluated using receiver operating characteristic curve analysis.

Results: A total of 5 variants associated with DCM susceptibility were identified to develop the genetic risk score. A score of at least 6.4 was more strongly associated with increased risk of DCM (odds ratio, 2.4; P < .001) than scores lower than 6.4. Statistical significance remained evident in multivariate analysis after adjusting for traditional risk factors, including age, sex, hypertension, diabetes, and smoking status (odds ratio, 2.54; P < .001). Individuals with a score of at least 6.4 exhibited a decrease in left ventricular ejection fraction and an increase in left ventricular end-diastolic diameter compared with individuals with a score lower than 6.4 (P < .001). Stratification by age, sex, history of hypertension, diabetes, and smoking status did not substantially affect the association between genetic risk score and the risk of DCM. The discriminant power of the genetic risk score is excellent, with a C statistic of 0.72.

Conclusion: The genetic risk score, which consists of 5 variants, could effectively identify individuals at high risk of DCM in the study population and aid in the implementation of early prevention strategies in clinical practice.

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来源期刊
Texas Heart Institute Journal
Texas Heart Institute Journal CARDIAC & CARDIOVASCULAR SYSTEMS-
自引率
11.10%
发文量
131
期刊介绍: For more than 45 years, the Texas Heart Institute Journal has been published by the Texas Heart Institute as part of its medical education program. Our bimonthly peer-reviewed journal enjoys a global audience of physicians, scientists, and healthcare professionals who are contributing to the prevention, diagnosis, and treatment of cardiovascular disease. The Journal was printed under the name of Cardiovascular Diseases from 1974 through 1981 (ISSN 0093-3546). The name was changed to Texas Heart Institute Journal in 1982 and was printed through 2013 (ISSN 0730-2347). In 2014, the Journal moved to online-only publication. It is indexed by Index Medicus/MEDLINE and by other indexing and abstracting services worldwide. Our full archive is available at PubMed Central. The Journal invites authors to submit these article types for review: -Clinical Investigations- Laboratory Investigations- Reviews- Techniques- Coronary Anomalies- History of Medicine- Case Reports/Case Series (Submission Fee: $70.00 USD)- Images in Cardiovascular Medicine (Submission Fee: $35.00 USD)- Guest Editorials- Peabody’s Corner- Letters to the Editor
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