A functional variant of IFNγ gene is associated with coeliac disease
A functional variant of IFNγ gene is associated with coeliac disease
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IFNγ基因的功能变异与乳糜泻有关
DOI：
10.1038/sj.gene.6364115
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发表时间：
2004
影响因子：
5
通讯作者：
J. Martín
中科院分区：
文献类型：
--
作者：
B. Rueda;A. Martínez;M. López;A. Mas;L. Paco;E. Ortega;M. Fernández‐Arquero;E. Urcelay;E. G. Concha;J. Martín
在乳糜泻（CD）中，促炎性细胞因子谱是分泌的干扰素γ（IFNγ）是最重要的促炎性细胞因子之一。在IFNγ基因的第一个内含子上发现了一种由可变数量的CA重复组成的二核苷酸多态性，该多态性与IFNγ的产生水平有关。本研究的目的是通过家族和病例对照研究分析功能性IFNγ CA重复序列在CD易感性中的影响。家系分析表明，124 bp等位基因是显着更多的传播到受影响的后代（P= 0.02），而126 bp等位基因显示了统计学上显着的非传播模式（P= 0.01）。然而，在病例对照分析中，我们没有发现CA重复序列与CD直接相关。这可能是由于IFNγ CA多态性的亲本效应所致。我们的数据表明IFNγ CA多态性在CD易感性中可能起作用。
In coeliac disease (CD) a profile of proinflammatory cytokines are secreted interferon gamma (IFNγ) being one of the most important. A dinucleotide polymorphism consisting of a variable number of CA repeats related with IFNγ production levels, has been reported on the first intron of the IFNγ gene. The aim of this study was to analyse the influence of the functional IFNγ CA repeats in CD predisposition through familial and case–control studies. The familial analysis showed that the 124 bp allele was significantly more transmitted to the affected offspring (P= 0.02), while the 126 bp allele showed a statistically significant nontransmission pattern (P= 0.01). Nevertheless, in the case–control analysis, we could not find a direct association of CA repeats with CD. This fact might be due to parent-of-origin effect in the IFNγ CA polymorphism. Our data suggest a possible role of IFNγ CA polymorphism in CD susceptibility.