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Interleukin 6 gene promoter polymorphism is not associated with Kawasaki disease

Authors
 M H Sohn  ;  M-W Hur  ;  D S Kim 
Citation
 GENES AND IMMUNITY, Vol.2(7) : 357-362, 2001 
Journal Title
 GENES AND IMMUNITY 
ISSN
 1466-4879 
Issue Date
2001
MeSH
Acute Disease ; Animals ; Base Sequence ; Cell Line ; Child, Preschool ; DNA Mutational Analysis ; Female ; Genes, Reporter/genetics ; Genetic Predisposition to Disease ; HeLa Cells ; Humans ; Infant ; Interleukin-6/blood ; Interleukin-6/genetics* ; Male ; Mucocutaneous Lymph Node Syndrome/blood ; Mucocutaneous Lymph Node Syndrome/genetics* ; Mutagenesis, Site-Directed ; Mutation/genetics ; Polymerase Chain Reaction ; Polymorphism, Genetic/genetics* ; Promoter Regions, Genetic/genetics* ; Transcriptional Activation/genetics ; Transfection
Keywords
Kawasaki disease ; IL-6, promoter ; polymorphism
Abstract
We examined the IL-6 gene promoter and detected several interesting promoter polymorphisms: GGGCTG insertion at +162 bp and G deletion at +168 bp positions (M1), A to G substitution at -594 bp (M2) of the reported IL-6 promoter sequence. Other rare variations were also observed at several positions: -583 bp (T insertion), -507 bp (C insertion), -71 bp (T deletion), +17 bp (C insertion), and +121 bp (GC insertion). Although Kawasaki disease (KD) patients demonstrate a drastic increase in serum interleukin-6 (IL-6) during the acute phase that parallels the duration of fever, there were no significant differences in the nucleotide sequence between the KD patients and normal control group. By transient transfection with IL-6 gene promoter-luciferase fusion plasmids into CV-1 cells, we tested the functional significances of the polymorphisms. Mutations at +162 bp, +168 bp and -594 bp significantly decreased luciferase expression (P < 0.05), suggesting the promoter elements flanking the mutated nucleotides are important in transcriptional activation.
Files in This Item:
T200101991.pdf Download
DOI
10.1038/sj.gene.6363785
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Biochemistry and Molecular Biology (생화학-분자생물학교실) > 1. Journal Papers
Yonsei Authors
Kim, Dong Soo(김동수)
Sohn, Myung Hyun(손명현) ORCID logo https://orcid.org/0000-0002-2478-487X
Hur, Man Wook(허만욱) ORCID logo https://orcid.org/0000-0002-3416-1334
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/142310
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