Gilberto Vargas-Alarcón, Óscar Pérez-Méndez, Marco Antonio Martínez-Ríos, Irán Díaz-Santillán, Luis Ángel Morales-Villamil, Hilda Delgadillo-Rodríguez, Rosalinda Posadas-Sánchez, Julián Ramírez-Bello, José Manuel Fragoso
{"title":"DEFB1 基因 rs11362 A/G 遗传变异与患 CAD 的风险有关：一项病例对照研究。","authors":"Gilberto Vargas-Alarcón, Óscar Pérez-Méndez, Marco Antonio Martínez-Ríos, Irán Díaz-Santillán, Luis Ángel Morales-Villamil, Hilda Delgadillo-Rodríguez, Rosalinda Posadas-Sánchez, Julián Ramírez-Bello, José Manuel Fragoso","doi":"10.1080/00015385.2024.2375487","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>In the present study, we evaluated whether <i>DEFB1</i> gene polymorphisms are associated with the presence of coronary artery disease (CAD).</p><p><strong>Methods: </strong>Two rs11362 <i>A/G</i>, and rs1800972 <i>C/G</i> gene polymorphisms of <i>DEFB1</i> gene were genotyped by 5'exonuclease TaqMan assays in 219 patients with CAD and 522 control individuals.</p><p><strong>Results: </strong>The distribution of rs1800972 <i>C/G</i> polymorphisms was similar in patients with CAD and healthy controls. Nonetheless, under the co-dominant, dominant, recessive, and additive models, the <i>AA</i> genotype of the rs11362 <i>A/G</i> polymorphism was associated with the risk of developing CAD (OR = 1.89 pC<sub>Co-Dom</sub> = 0.041, OR = 1.46, pC<sub>Dom</sub> = 0.034, OR = 1.69, pC<sub>Res</sub> = 0.039, and OR = 1.37, pC<sub>Add</sub> = 0.012, respectively). In addition, the linkage disequilibrium showed that the '<i>AG</i>' haplotype was associated with an increased risk of developing CAD (OR = 1.23, <i>p</i> = 0.042). According, with the Genotype-Tissue Expression (GTEx) consortium data, the rs11362 <i>AA</i> genotype is associated with a low mRNA expression of the β-defensin-1 in tissues, such as artery aorta, artery coronary, heart left ventricle, and heart atrial appendage (<i>p</i> < 0.001).</p><p><strong>Conclusion: </strong>This study demonstrates that rs11362 <i>A/G</i> polymorphism of the <i>DEFB1</i> gene is involved in the risk of developing CAD, and with a low RNA expression of the β-defensin-1 in heart tissue.</p>","PeriodicalId":6979,"journal":{"name":"Acta cardiologica","volume":" ","pages":"730-736"},"PeriodicalIF":2.1000,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"The <i>DEFB1</i> gene rs11362 <i>A/G</i> genetic variant is associated with risk of developing CAD: a case-control study.\",\"authors\":\"Gilberto Vargas-Alarcón, Óscar Pérez-Méndez, Marco Antonio Martínez-Ríos, Irán Díaz-Santillán, Luis Ángel Morales-Villamil, Hilda Delgadillo-Rodríguez, Rosalinda Posadas-Sánchez, Julián Ramírez-Bello, José Manuel Fragoso\",\"doi\":\"10.1080/00015385.2024.2375487\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>In the present study, we evaluated whether <i>DEFB1</i> gene polymorphisms are associated with the presence of coronary artery disease (CAD).</p><p><strong>Methods: </strong>Two rs11362 <i>A/G</i>, and rs1800972 <i>C/G</i> gene polymorphisms of <i>DEFB1</i> gene were genotyped by 5'exonuclease TaqMan assays in 219 patients with CAD and 522 control individuals.</p><p><strong>Results: </strong>The distribution of rs1800972 <i>C/G</i> polymorphisms was similar in patients with CAD and healthy controls. Nonetheless, under the co-dominant, dominant, recessive, and additive models, the <i>AA</i> genotype of the rs11362 <i>A/G</i> polymorphism was associated with the risk of developing CAD (OR = 1.89 pC<sub>Co-Dom</sub> = 0.041, OR = 1.46, pC<sub>Dom</sub> = 0.034, OR = 1.69, pC<sub>Res</sub> = 0.039, and OR = 1.37, pC<sub>Add</sub> = 0.012, respectively). In addition, the linkage disequilibrium showed that the '<i>AG</i>' haplotype was associated with an increased risk of developing CAD (OR = 1.23, <i>p</i> = 0.042). According, with the Genotype-Tissue Expression (GTEx) consortium data, the rs11362 <i>AA</i> genotype is associated with a low mRNA expression of the β-defensin-1 in tissues, such as artery aorta, artery coronary, heart left ventricle, and heart atrial appendage (<i>p</i> < 0.001).</p><p><strong>Conclusion: </strong>This study demonstrates that rs11362 <i>A/G</i> polymorphism of the <i>DEFB1</i> gene is involved in the risk of developing CAD, and with a low RNA expression of the β-defensin-1 in heart tissue.</p>\",\"PeriodicalId\":6979,\"journal\":{\"name\":\"Acta cardiologica\",\"volume\":\" \",\"pages\":\"730-736\"},\"PeriodicalIF\":2.1000,\"publicationDate\":\"2024-08-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Acta cardiologica\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1080/00015385.2024.2375487\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/7/8 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q3\",\"JCRName\":\"CARDIAC & CARDIOVASCULAR SYSTEMS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Acta cardiologica","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/00015385.2024.2375487","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/7/8 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"CARDIAC & CARDIOVASCULAR SYSTEMS","Score":null,"Total":0}
The DEFB1 gene rs11362 A/G genetic variant is associated with risk of developing CAD: a case-control study.
Background: In the present study, we evaluated whether DEFB1 gene polymorphisms are associated with the presence of coronary artery disease (CAD).
Methods: Two rs11362 A/G, and rs1800972 C/G gene polymorphisms of DEFB1 gene were genotyped by 5'exonuclease TaqMan assays in 219 patients with CAD and 522 control individuals.
Results: The distribution of rs1800972 C/G polymorphisms was similar in patients with CAD and healthy controls. Nonetheless, under the co-dominant, dominant, recessive, and additive models, the AA genotype of the rs11362 A/G polymorphism was associated with the risk of developing CAD (OR = 1.89 pCCo-Dom = 0.041, OR = 1.46, pCDom = 0.034, OR = 1.69, pCRes = 0.039, and OR = 1.37, pCAdd = 0.012, respectively). In addition, the linkage disequilibrium showed that the 'AG' haplotype was associated with an increased risk of developing CAD (OR = 1.23, p = 0.042). According, with the Genotype-Tissue Expression (GTEx) consortium data, the rs11362 AA genotype is associated with a low mRNA expression of the β-defensin-1 in tissues, such as artery aorta, artery coronary, heart left ventricle, and heart atrial appendage (p < 0.001).
Conclusion: This study demonstrates that rs11362 A/G polymorphism of the DEFB1 gene is involved in the risk of developing CAD, and with a low RNA expression of the β-defensin-1 in heart tissue.
期刊介绍：
Acta Cardiologica is an international journal. It publishes bi-monthly original, peer-reviewed articles on all aspects of cardiovascular disease including observational studies, clinical trials, experimental investigations with clear clinical relevance and tutorials.
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