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首页> 外文期刊>Sarcoidosis, vasculitis, and diffuse lung diseases: official journal of WASOG >Evidence for disease phenotype associated haplotypes (DR.TNF) in sarcoidosis.
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Evidence for disease phenotype associated haplotypes (DR.TNF) in sarcoidosis.

机译：结节病中与疾病表型相关的单倍型（DR.TNF）的证据。

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BACKGROUND AND AIM OF THE WORK: In a previous study, gene polymorphisms of the MHC locus (-308 TNFalpha promotor, HLA-DR) in patients with pulmonary sarcoidosis had been investigated and significant correlations with the presentation of the disease as defined by the presence of Lofgren syndrome had been found. Since genotyping of both loci was necessary to reveal a significant difference on the genetic level between the two patient groups Lofgren and non-Lofgren, a working hypothesis was derived in which a disease course associated haplotype, rather than single specific genes, was considered to play a role in the pathogenesis of sarcoidosis. METHODS: A first step to test this hypothesis was taken by calculating virtual haplotypes from these previous data. Statistical analysis of disease phenotype association and relative risk of these virtual haplotypes was performed to assess correlations with sarcoidosis and the two disease phenotypes. RESULTS: The results not only substantiated the previous findings, but also showed that the virtual haplotype DR3.TNFalpha2 was significantly associated with Lofgren syndrome and that the virtual haplotype DR2.TNFalpha1 was noticeably although not significantly associated with the non-Lofgren patients. CONCLUSIONS: Using theoretical calculations based on actual data, haplotypes, rather than single genes interacting with each other, were found to be a highly likely explanation for the previously published observations. In addition, the results allow the conclusion to be drawn that disease course associated haplotypes in sarcoidosis are highly probable and that further investigation of polymorphisms in the MHC gene region holds the potential of defining prognostic markers.
机译：工作背景和目的：在先前的研究中，研究了肺结节病患者MHC基因位点（-308 TNFalpha启动子，HLA-DR）的基因多态性，并与存在该病的疾病呈显着相关性。已发现Lofgren综合征。由于两个基因座的基因分型对于揭示洛夫格伦和非洛夫格伦两个患者群体之间的遗传水平显着差异是必要的，因此得出了一个可行的假设，其中疾病过程相关的单倍型而非单个特定基因被认为发挥了作用。在结节病的发病机理中起作用。方法：通过从这些先前数据计算虚拟单倍型来检验该假设的第一步。对疾病表型关联和这些虚拟单倍型的相对风险进行统计分析，以评估与结节病和两种疾病表型的相关性。结果：结果不仅证实了先前的发现，而且还表明虚拟单倍型DR3.TNFalpha2与洛夫格伦综合征显着相关，并且虚拟单倍型DR2.TNFalpha1与非洛夫格伦患者显着相关，尽管并不显着。结论：使用基于实际数据的理论计算，单倍型而不是单个基因彼此相互作用被发现是以前发表的观察结果的极有可能的解释。此外，这些结果可以得出结论，结节病的病程相关单倍型极有可能，并且进一步研究MHC基因区域的多态性具有定义预后标志物的潜力。

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