Functional investigation of a venous thromboembolism GWAS signal in a promoter region of coagulation factor XI gene
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Kong, Minyoung | - |
dc.contributor.author | Kim, Younyoung | - |
dc.contributor.author | Lee, Chaeyoung | - |
dc.date.available | 2018-05-09T11:12:41Z | - |
dc.date.created | 2018-04-17 | - |
dc.date.issued | 2014-04 | - |
dc.identifier.issn | 0301-4851 | - |
dc.identifier.uri | http://scholarworks.bwise.kr/ssu/handle/2018.sw.ssu/10083 | - |
dc.description.abstract | Coagulation factor XI (FXI) is essential for normal function of the intrinsic pathway of blood coagulation. A nucleotide variant (rs3756008) in the promoter region of the FXI gene was recently reported for association with venous thromboembolism. This study aimed to examine promoter activity of the rs3756008 or other variants linked with it. Luciferase assay was analyzed with minigenes including haplotypes (AA with frequency of 0.62 and TG with frequency of 0.38) of 2 completely linked nucleotide variants (rs3756008 and rs3756009) in 5'-upstream region of the FXI gene. While their expression did not differ in hepatic cell (P > 0.05), the major haplotype (AA) made a significantly more expression (P < 0.05) than the minor haplotype (TG) in human embryonic kidney 293 cells. Further luciferase analysis with additional haplotypes (artificial; TA, AG) revealed that the large expression was caused by the major allele of rs3756008 (P < 0.05), but not by that of rs3756009 (P > 0.05). We suggested that the minor allele of rs3756008 in the promoter of FXI gene could reduce its expression in kidney. | - |
dc.publisher | SPRINGER | - |
dc.relation.isPartOf | MOLECULAR BIOLOGY REPORTS | - |
dc.subject | CHRONIC KIDNEY-DISEASE | - |
dc.subject | FACTOR-V-LEIDEN | - |
dc.subject | HUMAN-PLATELETS | - |
dc.subject | BLEEDING RISK | - |
dc.subject | RENAL-DISEASE | - |
dc.subject | THROMBOSIS | - |
dc.subject | PLASMA | - |
dc.subject | FIBRINOLYSIS | - |
dc.subject | HEMOSTASIS | - |
dc.subject | INHIBITION | - |
dc.title | Functional investigation of a venous thromboembolism GWAS signal in a promoter region of coagulation factor XI gene | - |
dc.type | Article | - |
dc.identifier.doi | 10.1007/s11033-014-3049-1 | - |
dc.type.rims | ART | - |
dc.identifier.bibliographicCitation | MOLECULAR BIOLOGY REPORTS, v.41, no.4, pp.2015 - 2019 | - |
dc.description.journalClass | 1 | - |
dc.identifier.wosid | 000333707100014 | - |
dc.identifier.scopusid | 2-s2.0-84897523152 | - |
dc.citation.endPage | 2019 | - |
dc.citation.number | 4 | - |
dc.citation.startPage | 2015 | - |
dc.citation.title | MOLECULAR BIOLOGY REPORTS | - |
dc.citation.volume | 41 | - |
dc.contributor.affiliatedAuthor | Lee, Chaeyoung | - |
dc.type.docType | Article | - |
dc.subject.keywordAuthor | Factor XI | - |
dc.subject.keywordAuthor | Haemostasis | - |
dc.subject.keywordAuthor | Promoter assay | - |
dc.subject.keywordAuthor | Rs3756008 | - |
dc.subject.keywordAuthor | Venous thromboembolism | - |
dc.subject.keywordPlus | CHRONIC KIDNEY-DISEASE | - |
dc.subject.keywordPlus | FACTOR-V-LEIDEN | - |
dc.subject.keywordPlus | HUMAN-PLATELETS | - |
dc.subject.keywordPlus | BLEEDING RISK | - |
dc.subject.keywordPlus | RENAL-DISEASE | - |
dc.subject.keywordPlus | THROMBOSIS | - |
dc.subject.keywordPlus | PLASMA | - |
dc.subject.keywordPlus | FIBRINOLYSIS | - |
dc.subject.keywordPlus | HEMOSTASIS | - |
dc.subject.keywordPlus | INHIBITION | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
Items in ScholarWorks are protected by copyright, with all rights reserved, unless otherwise indicated.
Soongsil University Library 369 Sangdo-Ro, Dongjak-Gu, Seoul, Korea (06978)02-820-0733
COPYRIGHT ⓒ SOONGSIL UNIVERSITY, ALL RIGHTS RESERVED.
Certain data included herein are derived from the © Web of Science of Clarivate Analytics. All rights reserved.
You may not copy or re-distribute this material in whole or in part without the prior written consent of Clarivate Analytics.