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首页> 外文期刊>Sarcoidosis, vasculitis, and diffuse lung diseases: official journal of WASOG >CARD15/NOD2, CD14, and toll-like receptor 4 gene polymorphisms in Greek patients with sarcoidosis.
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CARD15/NOD2, CD14, and toll-like receptor 4 gene polymorphisms in Greek patients with sarcoidosis.

机译：希腊结节病患者的CARD15 / NOD2，CD14和toll样受体4基因多态性。

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BACKGROUND: Sarcoidosis, similarly to Crohn's disease (CD), is a complex inflammatory disease of unknown etiology. The belief that a genetic susceptibility to the development of sarcoidosis exists was derived from observations of familial clustering of sarcoidosis cases and racial differences in disease prevalence. Taking into account the remarkable similarity in the immunopathophysiology of sarcoidosis and CD, and in further exploring the genetic background of sarcoidosis, we study gene polymorphisms known for their implication in CD. These polymorphisms are in the CARD15/NOD2 gene (R702W, G908R and 3020insC), as well as mutations in the promoter of the CD14 gene (T/C at position -159) and in the TLR4 gene (Asp299Gly and Thr399Ile). METHODS: DNA was obtained from 100 sarcoidosis patients and 150 healthy individuals. Genotyping was performed by allele specific PCR or by PCR-RFLP analysis. RESULTS: Although CARD 15/NOD2 mutations were more frequent in cases than in controls, the difference was significant only for the G908R polymorphism (p = 0.024). Interestingly, the same was recorded with reference to the T allele (p = 0.002) and TT genotype (p = 0.017) frequencies of the CD14 promoter. No differences were observed in the 299Gly and 399Ile allele frequencies between patients and controls. Finally, the co-existence of a mutation in the CARD15/NOD2 and the CD14 genes was associated with sarcoidosis at a higher level of significance than any of these mutations separately. CONCLUSION: Our results suggest that the G908R mutation of the CARD15/NOD2 gene, as well as the T allele and TT genotype of the CD14 promoter are associated with increased susceptibility for developing sarcoidosis.
机译：背景：结节病类似于克罗恩病（CD），是一种病因不明的复杂炎症性疾病。人们认为，对结节病的发展具有遗传易感性，这是根据观察到的结节病病例的家族簇集和疾病流行程度的种族差异得出的。考虑到结节病和CD的免疫病理生理学上的显着相似性，并在进一步探索结节病的遗传背景时，我们研究了以其在CD中的作用而闻名的基因多态性。这些多态性在CARD15 / NOD2基因（R702W，G908R和3020insC）中，以及在CD14基因的启动子中（-159位置的T / C）和TLR4基因中的突变（Asp299Gly和Thr399Ile）中。方法：从100名结节病患者和150名健康个体中获得DNA。通过等位基因特异性PCR或PCR-RFLP分析进行基因分型。结果：尽管病例中CARD 15 / NOD2突变的发生率高于对照组，但差异仅在G908R多态性上才有意义（p = 0.024）。有趣的是，关于CD14启动子的T等位基因（p = 0.002）和TT基因型（p = 0.017）频率也记录了相同的结果。患者和对照之间在299Gly和399Ile等位基因频率上没有观察到差异。最后，CARD15 / NOD2和CD14基因中突变的共存与结节病相关，其显着性水平高于这些突变中的任何一个。结论：我们的结果表明，CARD15 / NOD2基因的G908R突变以及CD14启动子的T等位基因和TT基因型与结节病的易感性增加相关。

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