RHOB基因的转录活性受其启动子区域的调控多态性的影响。

IF 3.5 Q1 EDUCATION & EDUCATIONAL RESEARCH
Genomic medicine Pub Date : 2007-01-01 Epub Date: 2007-11-20 DOI:10.1007/s11568-007-9012-7
Sandra Mahr, Brigitte Müller-Hilke
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引用次数: 4

摘要

骨关节炎(OA)是一种慢性关节疾病,其病因与遗传和环境因素有关。我们最近发现RHOB基因在骨关节炎中过度表达。有趣的是,RHOB在其启动子区域有许多多态性,OA患者和健康对照的基因分型显示单核苷酸多态性(SNP) rs585017与疾病有关。我们在此着手研究RHOB启动子多态性对该基因转录活性的影响,我们发现snp rs2602160和rs585017协同调节RHOB表达的证据。此外,可变数量的串联重复序列(VNTR)以细胞类型受限的方式影响RHOB的转录活性。这些结果将我们之前发现的RHOB表达升高与疾病相关的SNP rs585017的机制联系起来,并证实了调节多态性在骨关节炎中的作用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Transcriptional activity of the RHOB gene is influenced by regulatory polymorphisms in its promoter region.

Osteoarthritis (OA) is a chronic joint disease with genetic as well as environmental factors contributing to its etiology. We recently identified RHOB as a gene overexpressed in osteoarthritis. Interestingly, RHOB harbors numerous polymorphisms in its promoter region and genotyping of OA patients and healthy controls revealed an association of the single nucleotide polymorphism (SNP) rs585017 with the disease. We here set out to investigate the influence of RHOB promoter polymorphisms on the transcriptional activity of the gene and we found evidence that the SNPs rs2602160 and rs585017 cooperate in regulating RHOB expression. In addition, a variable number of tandem repeats (VNTR) impacts on the RHOB transcriptional activity in a cell type restricted manner. These results mechanistically link our previous finding of an elevated RHOB expression to the disease associated SNP rs585017 and confirm a role for regulatory polymorphisms in osteoarthritis.

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