Javier Jimenez, Hanyu Ni, Stuart D Katz, Garrie J Haas, Jinwen Cao, Muni Rubens, Sandra Chaparro, Anshul Saxena, Mark Hofmeyer, Evan Kransdorf, Gregory A Ewald, Alanna A Morris, Anjali Owens, Brian Lowes, Douglas Stoller, W H Wilson Tang, Palak Shah, Jane E Wilcox, Frank Smart, Jessica Wang, Stephen S Gottlieb, Daniel P Judge, Jonathan O Mead, Natalie Hurst, Patricia K Parker, Gordon S Huggins, Elizabeth Jordan, Daniel D Kinnamon, Ray E Hershberger
{"title":"扩张型心肌病患者及其一级亲属的酒精暴露：DCM 精准医学研究","authors":"Javier Jimenez, Hanyu Ni, Stuart D Katz, Garrie J Haas, Jinwen Cao, Muni Rubens, Sandra Chaparro, Anshul Saxena, Mark Hofmeyer, Evan Kransdorf, Gregory A Ewald, Alanna A Morris, Anjali Owens, Brian Lowes, Douglas Stoller, W H Wilson Tang, Palak Shah, Jane E Wilcox, Frank Smart, Jessica Wang, Stephen S Gottlieb, Daniel P Judge, Jonathan O Mead, Natalie Hurst, Patricia K Parker, Gordon S Huggins, Elizabeth Jordan, Daniel D Kinnamon, Ray E Hershberger","doi":"10.1161/CIRCGEN.124.004946","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Whether prolonged and excessive alcohol consumption contributes to dilated cardiomyopathy (DCM) remains uncertain. This study aimed to describe the prevalence of alcohol use in patients with DCM and their first-degree relatives (FDRs) and determine if cumulative alcohol exposure associates with DCM/partial DCM or modifies the association of DCM with DCM-relevant rare variants.</p><p><strong>Methods: </strong>All probands had DCM; FDRs were classified as with or without DCM or partial DCM. Alcohol exposure was measured with the Alcohol Use Disorder Identification Test-Consumption questionnaire and years of drinking. Rare variants in 36 DCM genes were classified as pathogenic, likely pathogenic, or variants of uncertain significance (pathogenic, likely pathogenic, variant of uncertain significance). Generalized linear mixed models were used to assess the association of DCM/partial DCM with alcohol use among FDRs.</p><p><strong>Results: </strong>DCM/partial DCM was found in 21.8% of 1373 FDRs of 1148 DCM probands. The prevalence of former or current alcohol use was 68% for probands and 70% for FDRs. About 30% of probands and 37% of FDRs had positive Alcohol Use Disorder Identification Test-Consumption scores, indicating moderate or heavy drinking. Among FDRs, DCM/partial DCM was associated with the presence of pathogenic/likely pathogenic variants in DCM genes (odds ratio, 3.51 [95% CI, 2.33-5.29]) but not with alcohol exposure. Cumulative alcohol exposure was not found to modify the association between DCM/partial DCM and these variants (<i>P</i>=0.55).</p><p><strong>Conclusions: </strong>Alcohol use was frequent among probands and FDRs. This study did not provide evidence supporting an association of cumulative alcohol exposure with DCM/partial DCM or a modifying effect of alcohol use on the association of DCM with DCM-relevant rare variants.</p><p><strong>Registration: </strong>URL: https://www.clinicaltrials.gov; Unique identifier: NCT03037632.</p>","PeriodicalId":10326,"journal":{"name":"Circulation: Genomic and Precision Medicine","volume":" ","pages":"e004946"},"PeriodicalIF":6.0000,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Alcohol Exposure Among Patients With Dilated Cardiomyopathy and Their First-Degree Relatives: The DCM Precision Medicine Study.\",\"authors\":\"Javier Jimenez, Hanyu Ni, Stuart D Katz, Garrie J Haas, Jinwen Cao, Muni Rubens, Sandra Chaparro, Anshul Saxena, Mark Hofmeyer, Evan Kransdorf, Gregory A Ewald, Alanna A Morris, Anjali Owens, Brian Lowes, Douglas Stoller, W H Wilson Tang, Palak Shah, Jane E Wilcox, Frank Smart, Jessica Wang, Stephen S Gottlieb, Daniel P Judge, Jonathan O Mead, Natalie Hurst, Patricia K Parker, Gordon S Huggins, Elizabeth Jordan, Daniel D Kinnamon, Ray E Hershberger\",\"doi\":\"10.1161/CIRCGEN.124.004946\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Whether prolonged and excessive alcohol consumption contributes to dilated cardiomyopathy (DCM) remains uncertain. This study aimed to describe the prevalence of alcohol use in patients with DCM and their first-degree relatives (FDRs) and determine if cumulative alcohol exposure associates with DCM/partial DCM or modifies the association of DCM with DCM-relevant rare variants.</p><p><strong>Methods: </strong>All probands had DCM; FDRs were classified as with or without DCM or partial DCM. Alcohol exposure was measured with the Alcohol Use Disorder Identification Test-Consumption questionnaire and years of drinking. Rare variants in 36 DCM genes were classified as pathogenic, likely pathogenic, or variants of uncertain significance (pathogenic, likely pathogenic, variant of uncertain significance). Generalized linear mixed models were used to assess the association of DCM/partial DCM with alcohol use among FDRs.</p><p><strong>Results: </strong>DCM/partial DCM was found in 21.8% of 1373 FDRs of 1148 DCM probands. The prevalence of former or current alcohol use was 68% for probands and 70% for FDRs. About 30% of probands and 37% of FDRs had positive Alcohol Use Disorder Identification Test-Consumption scores, indicating moderate or heavy drinking. Among FDRs, DCM/partial DCM was associated with the presence of pathogenic/likely pathogenic variants in DCM genes (odds ratio, 3.51 [95% CI, 2.33-5.29]) but not with alcohol exposure. Cumulative alcohol exposure was not found to modify the association between DCM/partial DCM and these variants (<i>P</i>=0.55).</p><p><strong>Conclusions: </strong>Alcohol use was frequent among probands and FDRs. This study did not provide evidence supporting an association of cumulative alcohol exposure with DCM/partial DCM or a modifying effect of alcohol use on the association of DCM with DCM-relevant rare variants.</p><p><strong>Registration: </strong>URL: https://www.clinicaltrials.gov; Unique identifier: NCT03037632.</p>\",\"PeriodicalId\":10326,\"journal\":{\"name\":\"Circulation: Genomic and Precision Medicine\",\"volume\":\" \",\"pages\":\"e004946\"},\"PeriodicalIF\":6.0000,\"publicationDate\":\"2025-03-28\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Circulation: Genomic and Precision Medicine\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1161/CIRCGEN.124.004946\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"CARDIAC & CARDIOVASCULAR SYSTEMS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Circulation: Genomic and Precision Medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1161/CIRCGEN.124.004946","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"CARDIAC & CARDIOVASCULAR SYSTEMS","Score":null,"Total":0}
Alcohol Exposure Among Patients With Dilated Cardiomyopathy and Their First-Degree Relatives: The DCM Precision Medicine Study.
Background: Whether prolonged and excessive alcohol consumption contributes to dilated cardiomyopathy (DCM) remains uncertain. This study aimed to describe the prevalence of alcohol use in patients with DCM and their first-degree relatives (FDRs) and determine if cumulative alcohol exposure associates with DCM/partial DCM or modifies the association of DCM with DCM-relevant rare variants.
Methods: All probands had DCM; FDRs were classified as with or without DCM or partial DCM. Alcohol exposure was measured with the Alcohol Use Disorder Identification Test-Consumption questionnaire and years of drinking. Rare variants in 36 DCM genes were classified as pathogenic, likely pathogenic, or variants of uncertain significance (pathogenic, likely pathogenic, variant of uncertain significance). Generalized linear mixed models were used to assess the association of DCM/partial DCM with alcohol use among FDRs.
Results: DCM/partial DCM was found in 21.8% of 1373 FDRs of 1148 DCM probands. The prevalence of former or current alcohol use was 68% for probands and 70% for FDRs. About 30% of probands and 37% of FDRs had positive Alcohol Use Disorder Identification Test-Consumption scores, indicating moderate or heavy drinking. Among FDRs, DCM/partial DCM was associated with the presence of pathogenic/likely pathogenic variants in DCM genes (odds ratio, 3.51 [95% CI, 2.33-5.29]) but not with alcohol exposure. Cumulative alcohol exposure was not found to modify the association between DCM/partial DCM and these variants (P=0.55).
Conclusions: Alcohol use was frequent among probands and FDRs. This study did not provide evidence supporting an association of cumulative alcohol exposure with DCM/partial DCM or a modifying effect of alcohol use on the association of DCM with DCM-relevant rare variants.
期刊介绍：
Circulation: Genomic and Precision Medicine is a distinguished journal dedicated to advancing the frontiers of cardiovascular genomics and precision medicine. It publishes a diverse array of original research articles that delve into the genetic and molecular underpinnings of cardiovascular diseases. The journal's scope is broad, encompassing studies from human subjects to laboratory models, and from in vitro experiments to computational simulations.
Circulation: Genomic and Precision Medicine is committed to publishing studies that have direct relevance to human cardiovascular biology and disease, with the ultimate goal of improving patient care and outcomes. The journal serves as a platform for researchers to share their groundbreaking work, fostering collaboration and innovation in the field of cardiovascular genomics and precision medicine.
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