Cited 14 times in
Liver X receptors alpha gene (NR1H3) promoter polymorphisms are associated with systemic lupus erythematosus in Koreans
DC Field | Value | Language |
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dc.contributor.author | 박용범 | - |
dc.date.accessioned | 2015-12-28T11:08:45Z | - |
dc.date.available | 2015-12-28T11:08:45Z | - |
dc.date.issued | 2014 | - |
dc.identifier.issn | 1478-6354 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/138793 | - |
dc.description.abstract | INTRODUCTION: Liver X receptors are established sensors of lipid and cholesterol homeostasis. Recent studies have reported that these receptors are involved in the regulation of inflammation and immune responses. We attempted to identify single nucleotide polymorphisms (SNPs) of the NR1H3 gene associated with the susceptibility to systemic lupus erythematosus (SLE). METHODS: SNPs were genotyped using SNaPSHOT assay in 300 Korean patients with SLE and 217 normal controls (NC), and in replication samples (160 SLE patients and 143 NC). Also, the functional effects of NR1H3 gene promoter polymorphisms were analyzed using a luciferase assay, real-time polymerase chain reaction, B cell proliferation assay and an electrophoretic mobility shift assay. RESULTS: We identified five polymorphisms: -1851 T > C (rs3758673), -1830 T > C (rs3758674), -1003 G > A (new), -840 C > A (rs61896015) and -115 G > A (rs12221497). There was a significant and reproducible difference in the -1830 T > C, -1003 G > A and -115 G > A polymorphisms between the SLE and the NC. Luciferase activity of the structure containing -1830 C was less enhanced compared to the structure containing -1830 T in basal, GW3965 and T0901317 treated Hep3B cells (P = 0.009, P = 0.034 and P <0.001, respectively). Proliferation of the -1830 TC type was increased compared to the -1830 TT type in basal, GW3965 and T0901317 treated B cells from SLE patients (P = 0.011, P = 0.040 and P = 0.017, respectively). Transcription factor GATA-3 preferentially bound the -1830 T allele in the promoter. CONCLUSIONS: NR1H3 genetic polymorphisms may be associated with disease susceptibility and clinical manifestations of SLE. Specifically, -1830 T > C polymorphism within NR1H3 promoter region may be involved in regulation of NR1H3 expression. | - |
dc.description.statementOfResponsibility | open | - |
dc.format.extent | R112 | - |
dc.relation.isPartOf | ARTHRITIS RESEARCH & THERAPY | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.subject.MESH | Adult | - |
dc.subject.MESH | Asian Continental Ancestry Group/genetics | - |
dc.subject.MESH | B-Lymphocytes/metabolism | - |
dc.subject.MESH | Cell Proliferation | - |
dc.subject.MESH | Cells, Cultured | - |
dc.subject.MESH | Female | - |
dc.subject.MESH | Gene Expression | - |
dc.subject.MESH | Gene Frequency | - |
dc.subject.MESH | Genetic Predisposition to Disease/ethnology | - |
dc.subject.MESH | Genetic Predisposition to Disease/genetics* | - |
dc.subject.MESH | Genotype | - |
dc.subject.MESH | Haplotypes | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Linkage Disequilibrium | - |
dc.subject.MESH | Liver X Receptors | - |
dc.subject.MESH | Lupus Erythematosus, Systemic/ethnology | - |
dc.subject.MESH | Lupus Erythematosus, Systemic/genetics* | - |
dc.subject.MESH | Male | - |
dc.subject.MESH | Orphan Nuclear Receptors/genetics* | - |
dc.subject.MESH | Polymorphism, Single Nucleotide* | - |
dc.subject.MESH | Promoter Regions, Genetic/genetics* | - |
dc.subject.MESH | Republic of Korea | - |
dc.subject.MESH | Reverse Transcriptase Polymerase Chain Reaction | - |
dc.subject.MESH | Young Adult | - |
dc.title | Liver X receptors alpha gene (NR1H3) promoter polymorphisms are associated with systemic lupus erythematosus in Koreans | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Internal Medicine (내과학) | - |
dc.contributor.googleauthor | Ja-Young Jeon | - |
dc.contributor.googleauthor | Jin-Young Nam | - |
dc.contributor.googleauthor | Hyoun-Ah Kim | - |
dc.contributor.googleauthor | Yong-Beom Park | - |
dc.contributor.googleauthor | Sang-Cheol Bae | - |
dc.contributor.googleauthor | Chang-Hee Suh | - |
dc.identifier.doi | 10.1186/ar4563 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A01579 | - |
dc.relation.journalcode | J00241 | - |
dc.identifier.eissn | 1478-6362 | - |
dc.identifier.pmid | 24886807 | - |
dc.subject.keyword | Systemic Lupus Erythematosus | - |
dc.subject.keyword | Systemic Lupus Erythematosus Patient | - |
dc.subject.keyword | Electrophoretic Mobility Shift Assay | - |
dc.subject.keyword | Recessive Model | - |
dc.subject.keyword | Hep3B Cell | - |
dc.contributor.alternativeName | Park, Yong Beom | - |
dc.contributor.affiliatedAuthor | Park, Yong Beom | - |
dc.citation.volume | 16 | - |
dc.citation.number | 3 | - |
dc.citation.startPage | 112 | - |
dc.identifier.bibliographicCitation | ARTHRITIS RESEARCH & THERAPY, Vol.16(3) : 112, 2014 | - |
dc.identifier.rimsid | 53794 | - |
dc.type.rims | ART | - |
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