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Bhak, Jong
KOrean GenomIcs Center
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dc.citation.startPage 1226971 -
dc.citation.title FRONTIERS IN CARDIOVASCULAR MEDICINE -
dc.citation.volume 10 -
dc.contributor.author Jeon, Yeonsu -
dc.contributor.author Jeon, Sungwon -
dc.contributor.author An, Kyungwhan -
dc.contributor.author Kim, Yeo Jin -
dc.contributor.author Kim, Byoung-Chul -
dc.contributor.author Ryu, Hyojung -
dc.contributor.author Choi, Whan-Hyuk -
dc.contributor.author Choi, HyunJoo -
dc.contributor.author Kim, Weon -
dc.contributor.author Lee, Sang Yeub -
dc.contributor.author Bae, Jang-Whan -
dc.contributor.author Hwang, Jin-Yong -
dc.contributor.author Kang, Min Gyu -
dc.contributor.author An, Seolbin -
dc.contributor.author Kim, Yeonkyung -
dc.contributor.author Kang, Younghui -
dc.contributor.author Kim, Byung Chul -
dc.contributor.author Bhak, Jong -
dc.contributor.author Shin, Eun-Seok -
dc.date.accessioned 2023-12-21T11:51:43Z -
dc.date.available 2023-12-21T11:51:43Z -
dc.date.created 2023-08-09 -
dc.date.issued 2023-07 -
dc.description.abstract Background: Acute myocardial infarction (AMI) is one of the leading causes of death worldwide, and approximately half of AMI-related deaths occur before the affected individual reaches the hospital. The present study aimed to identify and validate genetic variants associated with AMI and their role as prognostic markers. Materials and methods: We conducted a replication study of 29 previously identified novel loci containing 85 genetic variants associated with early-onset AMI using a new independent set of 2,920 Koreans [88 patients with early- and 1,085 patients with late-onset AMI, who underwent percutaneous coronary intervention (PCI), and 1,747 healthy controls]. Results: Of the 85 previously reported early-onset variants, six were confirmed in our genome-wide association study with a false discovery rate of less than 0.05. Notably, rs12639023, a cis-eQTL located in the intergenic region between LINC02005 and CNTN3, significantly increased longitudinal cardiac mortality and recurrent AMI. CNTN3 is known to play a role in altering vascular permeability. Another variant, rs78631167, located upstream of PLAUR and known to function in fibrinolysis, was moderately replicated in this study. By surveying the nearby genomic region around rs78631167, we identified a significant novel locus (rs8109584) located 13 bp downstream of rs78631167. The present study showed that six of the early-onset variants of AMI are applicable to both early- and late-onset cases. Conclusion: Our results confirm markers that can potentially be utilized to predict, screen, prevent, and treat candidate patients with AMI and highlight the potential of rs12639023 as a prognostic marker for cardiac mortality in AMI. -
dc.identifier.bibliographicCitation FRONTIERS IN CARDIOVASCULAR MEDICINE, v.10, pp.1226971 -
dc.identifier.doi 10.3389/fcvm.2023.1226971 -
dc.identifier.issn 2297-055X -
dc.identifier.scopusid 2-s2.0-85165181769 -
dc.identifier.uri https://scholarworks.unist.ac.kr/handle/201301/65717 -
dc.identifier.wosid 001029311100001 -
dc.language 영어 -
dc.publisher FRONTIERS MEDIA SA -
dc.title Identification and validation of six acute myocardial infarction-associated variants, including a novel prognostic marker for cardiac mortality -
dc.type Article -
dc.description.isOpenAccess TRUE -
dc.relation.journalWebOfScienceCategory Cardiac & Cardiovascular Systems -
dc.relation.journalResearchArea Cardiovascular System & Cardiology -
dc.type.docType Article -
dc.description.journalRegisteredClass scie -
dc.description.journalRegisteredClass scopus -
dc.subject.keywordAuthor acute myocardial infarction -
dc.subject.keywordAuthor genome-wide association study -
dc.subject.keywordAuthor cardiac mortality -
dc.subject.keywordAuthor genetic marker -
dc.subject.keywordAuthor prognostic marker -

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