{"title":"突尼斯冠心病患者的 9 型枯草毒素/kexin 蛋白转化酶 rs7552841 多态性与心脏组织损伤生物标志物和血脂谱有关","authors":"","doi":"10.1016/j.genrep.2024.102031","DOIUrl":null,"url":null,"abstract":"<div><h3>Background</h3><p>Protein convertase subtilisin/kexin type 9 (PCSK9), a key protein in lipoprotein metabolism, is a candidate gene in the genesis of cardiovascular disease. However results about its relationship with coronary artery disease (CAD) are controversials. Objectives: The objectives of the present study were: first, to investigate the association between PCSK9 polymorphism (rs7552841) and CAD for the first time in a Tunisian population, second, to explore the association between this polymorphism and cardiovascular disease biomarkers in patients with CAD. Patients & Methods: One hundred and twenty nine healthy subjects and 101 patients with CAD are included in the study. PCSK9 genotypes were determined using the PCR-RFLP method. Results: The distribution of genotypes (CC + CT vs TT) showed significant difference between control and CAD groups (<em>p</em> = 0.02). In patients with CAD, C allele carriers had high level of cardiac tissue biomarkers. Lactate dehydrogenase (LDH), cardiac troponin I and aspartate aminotransferase (AST) were higher in CC + CT genotypes (<em>p</em> = 0.008, 0.047 and 0.043 respectively). More else in CC + CT carriers total cholesterol and LDL-C concentrations were significantly higher (<em>p</em> = 0.043 and 0.041 respectively) than TT genotype carriers. However oxidative stress (Malondialdehyde, Conjugated Diene and Glutathione Peroxidase) and inflammation biomarkers (C - reactive protein) did not vary according to rs7552841 polymorphism. Conclusion: CAD patients carrying C allele had higher levels of tissue damage biomarkers and cholesterol compared to TT homozygous which makes them more predisposed to CAD complications. More studies are required to determine if rs7552841 PCSK9 polymorphism could be taken into consideration in secondary prevention.</p></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":null,"pages":null},"PeriodicalIF":1.0000,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"The rs7552841 polymorphism of protein convertase subtilisin/kexin type 9 is associated with cardiac tissue damage biomarkers and lipid profile in Tunisian patients with coronary artery disease\",\"authors\":\"\",\"doi\":\"10.1016/j.genrep.2024.102031\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Background</h3><p>Protein convertase subtilisin/kexin type 9 (PCSK9), a key protein in lipoprotein metabolism, is a candidate gene in the genesis of cardiovascular disease. However results about its relationship with coronary artery disease (CAD) are controversials. Objectives: The objectives of the present study were: first, to investigate the association between PCSK9 polymorphism (rs7552841) and CAD for the first time in a Tunisian population, second, to explore the association between this polymorphism and cardiovascular disease biomarkers in patients with CAD. Patients & Methods: One hundred and twenty nine healthy subjects and 101 patients with CAD are included in the study. PCSK9 genotypes were determined using the PCR-RFLP method. Results: The distribution of genotypes (CC + CT vs TT) showed significant difference between control and CAD groups (<em>p</em> = 0.02). In patients with CAD, C allele carriers had high level of cardiac tissue biomarkers. Lactate dehydrogenase (LDH), cardiac troponin I and aspartate aminotransferase (AST) were higher in CC + CT genotypes (<em>p</em> = 0.008, 0.047 and 0.043 respectively). More else in CC + CT carriers total cholesterol and LDL-C concentrations were significantly higher (<em>p</em> = 0.043 and 0.041 respectively) than TT genotype carriers. However oxidative stress (Malondialdehyde, Conjugated Diene and Glutathione Peroxidase) and inflammation biomarkers (C - reactive protein) did not vary according to rs7552841 polymorphism. Conclusion: CAD patients carrying C allele had higher levels of tissue damage biomarkers and cholesterol compared to TT homozygous which makes them more predisposed to CAD complications. More studies are required to determine if rs7552841 PCSK9 polymorphism could be taken into consideration in secondary prevention.</p></div>\",\"PeriodicalId\":12673,\"journal\":{\"name\":\"Gene Reports\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.0000,\"publicationDate\":\"2024-09-12\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Gene Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2452014424001547\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Gene Reports","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2452014424001547","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
The rs7552841 polymorphism of protein convertase subtilisin/kexin type 9 is associated with cardiac tissue damage biomarkers and lipid profile in Tunisian patients with coronary artery disease
Background
Protein convertase subtilisin/kexin type 9 (PCSK9), a key protein in lipoprotein metabolism, is a candidate gene in the genesis of cardiovascular disease. However results about its relationship with coronary artery disease (CAD) are controversials. Objectives: The objectives of the present study were: first, to investigate the association between PCSK9 polymorphism (rs7552841) and CAD for the first time in a Tunisian population, second, to explore the association between this polymorphism and cardiovascular disease biomarkers in patients with CAD. Patients & Methods: One hundred and twenty nine healthy subjects and 101 patients with CAD are included in the study. PCSK9 genotypes were determined using the PCR-RFLP method. Results: The distribution of genotypes (CC + CT vs TT) showed significant difference between control and CAD groups (p = 0.02). In patients with CAD, C allele carriers had high level of cardiac tissue biomarkers. Lactate dehydrogenase (LDH), cardiac troponin I and aspartate aminotransferase (AST) were higher in CC + CT genotypes (p = 0.008, 0.047 and 0.043 respectively). More else in CC + CT carriers total cholesterol and LDL-C concentrations were significantly higher (p = 0.043 and 0.041 respectively) than TT genotype carriers. However oxidative stress (Malondialdehyde, Conjugated Diene and Glutathione Peroxidase) and inflammation biomarkers (C - reactive protein) did not vary according to rs7552841 polymorphism. Conclusion: CAD patients carrying C allele had higher levels of tissue damage biomarkers and cholesterol compared to TT homozygous which makes them more predisposed to CAD complications. More studies are required to determine if rs7552841 PCSK9 polymorphism could be taken into consideration in secondary prevention.
Gene ReportsBiochemistry, Genetics and Molecular Biology-Genetics
CiteScore
3.30
自引率
7.70%
发文量
246
审稿时长
49 days
期刊介绍:
Gene Reports publishes papers that focus on the regulation, expression, function and evolution of genes in all biological contexts, including all prokaryotic and eukaryotic organisms, as well as viruses. Gene Reports strives to be a very diverse journal and topics in all fields will be considered for publication. Although not limited to the following, some general topics include: DNA Organization, Replication & Evolution -Focus on genomic DNA (chromosomal organization, comparative genomics, DNA replication, DNA repair, mobile DNA, mitochondrial DNA, chloroplast DNA). Expression & Function - Focus on functional RNAs (microRNAs, tRNAs, rRNAs, mRNA splicing, alternative polyadenylation) Regulation - Focus on processes that mediate gene-read out (epigenetics, chromatin, histone code, transcription, translation, protein degradation). Cell Signaling - Focus on mechanisms that control information flow into the nucleus to control gene expression (kinase and phosphatase pathways controlled by extra-cellular ligands, Wnt, Notch, TGFbeta/BMPs, FGFs, IGFs etc.) Profiling of gene expression and genetic variation - Focus on high throughput approaches (e.g., DeepSeq, ChIP-Seq, Affymetrix microarrays, proteomics) that define gene regulatory circuitry, molecular pathways and protein/protein networks. Genetics - Focus on development in model organisms (e.g., mouse, frog, fruit fly, worm), human genetic variation, population genetics, as well as agricultural and veterinary genetics. Molecular Pathology & Regenerative Medicine - Focus on the deregulation of molecular processes in human diseases and mechanisms supporting regeneration of tissues through pluripotent or multipotent stem cells.