A regulatory SNP at position-899 in CDKN1A is associated with systemic lupus erythematosus and lupus nephritis
DC Field | Value | Language |
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dc.contributor.author | Kim, Kyunglan | - |
dc.contributor.author | Sung, Yoon Kyoung | - |
dc.contributor.author | Kang, Changwon | - |
dc.contributor.author | Choi, Chan Bum | - |
dc.contributor.author | Kang, Changwon | - |
dc.contributor.author | Bae, Sang Cheol | - |
dc.date.accessioned | 2022-12-20T21:42:12Z | - |
dc.date.available | 2022-12-20T21:42:12Z | - |
dc.date.created | 2022-08-26 | - |
dc.date.issued | 2009-07 | - |
dc.identifier.issn | 1466-4879 | - |
dc.identifier.uri | https://scholarworks.bwise.kr/hanyang/handle/2021.sw.hanyang/176563 | - |
dc.description.abstract | The CDKN1A gene encoding a cell cycle inhibitor, p21(WAF1/CIP1), is located in the systemic lupus erythematosus (SLE) susceptibility locus on chromosome 6p21.2. Decreased cellular levels of p21 are associated with SLE. Here, we examine four single-nucleotide polymorphisms (SNPs) within the promoter and two in the first intron of CDKN1A for association with SLE susceptibility. A comparison of 742 Korean SLE patients with 1017 controls disclosed that one SNP (rs762624 C>A at position -899), located at a putative Myb-binding site in the promoter, was associated with SLE susceptibility (P = 0.00047). This association was independent of the SLE-association signal of HLA-DRB1 on 6p21.3, as it was significant after adjustment for SLE-risk DRB1 alleles (P = 0.0012). The same SNP was associated with lupus nephritis (P = 0.000014). The risk allele-carrying promoter sequence displayed similar to 15% lower activity than the non-risk sequence upon fusion to the luciferase gene (P = 0.025). Endogenous CDKN1A mRNA levels measured in Epstein-Barr virus-transformed B cells established from 16 control subjects were linearly correlated with a decreasing copy number of the risk allele (P = 0.024). Accordingly, we conclude that the minor allele A at -899 of CDKN1A is associated with increased susceptibility to SLE and lupus nephritis, and decreased cellular levels of p21. | - |
dc.language | 영어 | - |
dc.language.iso | en | - |
dc.publisher | SPRINGERNATURE | - |
dc.title | A regulatory SNP at position-899 in CDKN1A is associated with systemic lupus erythematosus and lupus nephritis | - |
dc.type | Article | - |
dc.contributor.affiliatedAuthor | Sung, Yoon Kyoung | - |
dc.contributor.affiliatedAuthor | Choi, Chan Bum | - |
dc.contributor.affiliatedAuthor | Bae, Sang Cheol | - |
dc.identifier.doi | 10.1038/gene.2009.5 | - |
dc.identifier.scopusid | 2-s2.0-67849111539 | - |
dc.identifier.wosid | 000268168800013 | - |
dc.identifier.bibliographicCitation | GENES AND IMMUNITY, v.10, no.5, pp.482 - 486 | - |
dc.relation.isPartOf | GENES AND IMMUNITY | - |
dc.citation.title | GENES AND IMMUNITY | - |
dc.citation.volume | 10 | - |
dc.citation.number | 5 | - |
dc.citation.startPage | 482 | - |
dc.citation.endPage | 486 | - |
dc.type.rims | ART | - |
dc.type.docType | Article | - |
dc.description.journalClass | 1 | - |
dc.description.isOpenAccess | N | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
dc.relation.journalResearchArea | Genetics & Heredity | - |
dc.relation.journalResearchArea | Immunology | - |
dc.relation.journalWebOfScienceCategory | Genetics & Heredity | - |
dc.relation.journalWebOfScienceCategory | Immunology | - |
dc.subject.keywordPlus | REVISED CRITERIA | - |
dc.subject.keywordPlus | INHIBITOR P21 | - |
dc.subject.keywordPlus | T-CELLS | - |
dc.subject.keywordPlus | IN-VIVO | - |
dc.subject.keywordPlus | SUSCEPTIBILITY | - |
dc.subject.keywordPlus | CLASSIFICATION | - |
dc.subject.keywordPlus | PROLIFERATION | - |
dc.subject.keywordPlus | POLYMORPHISMS | - |
dc.subject.keywordPlus | ITGAM | - |
dc.subject.keywordAuthor | systemic lupus erythematosus | - |
dc.subject.keywordAuthor | SLE | - |
dc.subject.keywordAuthor | SNP | - |
dc.subject.keywordAuthor | CDKN1A | - |
dc.subject.keywordAuthor | p21 | - |
dc.subject.keywordAuthor | waf1 | - |
dc.identifier.url | https://www.nature.com/articles/gene20095 | - |
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