Jianjun Lan, Lin Wang, Guoyuan Qiu, Shihai Wang, Chao Yang, Mengnian Ran, Hongyu Li, Shiyang Li
{"title":"中国汉族扩张型心肌病易感性的遗传风险评分。","authors":"Jianjun Lan, Lin Wang, Guoyuan Qiu, Shihai Wang, Chao Yang, Mengnian Ran, Hongyu Li, Shiyang Li","doi":"10.14503/THIJ-24-8525","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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; <i>P</i> < .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; <i>P</i> < .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 (<i>P</i> < .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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":48680,"journal":{"name":"Texas Heart Institute Journal","volume":"52 1","pages":"e248525"},"PeriodicalIF":0.9000,"publicationDate":"2025-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12086268/pdf/","citationCount":"0","resultStr":"{\"title\":\"A Proposed Genetic Risk Score for Dilated Cardiomyopathy Susceptibility in the Chinese Han Population.\",\"authors\":\"Jianjun Lan, Lin Wang, Guoyuan Qiu, Shihai Wang, Chao Yang, Mengnian Ran, Hongyu Li, Shiyang Li\",\"doi\":\"10.14503/THIJ-24-8525\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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; <i>P</i> < .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; <i>P</i> < .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 (<i>P</i> < .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.</p><p><strong>Conclusion: </strong>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.</p>\",\"PeriodicalId\":48680,\"journal\":{\"name\":\"Texas Heart Institute Journal\",\"volume\":\"52 1\",\"pages\":\"e248525\"},\"PeriodicalIF\":0.9000,\"publicationDate\":\"2025-05-16\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12086268/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Texas Heart Institute Journal\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.14503/THIJ-24-8525\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Texas Heart Institute Journal","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.14503/THIJ-24-8525","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
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.
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.
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