Polymorphism of the human TNF-α promoter -: random variation or functional diversity?
Polymorphism of the human TNF-α promoter -: random variation or functional diversity?
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DOI：
10.1016/s0161-5890(99)00127-3
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发表时间：
1999-10-01
影响因子：
3.6
通讯作者：
Allen, RD
中科院分区：
文献类型：
--
作者：
Allen, RD
随着越来越多的细胞因子编码基因多态性的发现，一个关键的问题是，这种多态性是否有任何功能的影响。在这方面，最广泛研究的细胞因子基因之一是编码人TNF-α的基因。研究TNF-α启动子多态性是否对TNF-α转录有任何功能影响或影响疾病易感性的许多文献似乎报告了阴性结果，给出了外观并导致一些作者得出结论，该基因座的多态性在功能上是沉默的，并且仅由于与可选择的HLA等位基因的连锁不平衡而存在。这篇综述提出了一个新的分析现有的数据表明，在TNF-α启动子的多态性不是随机分布的，因此，它最有可能确实有一些功能和选择的影响。此外，现有数据的比较表明，在文献中有更多的共识比可能在第一次出现的情况。(C)2000爱思唯尔科技有限公司版权所有。
As more and more polymorphisms are discovered in the genes encoding cytokines, a crucial question is whether this polymorphism has any functional effect. One of the most widely studied cytokine genes in this respect is the gene encoding human TNF-alpha. Much of the literature investigating the issue of whether TNF-alpha promoter polymorphisms have any functional effect on TNF-alpha transcription or influence disease susceptibility appears to report negative results, giving the appearance and leading some authors to conclude that polymorphism at this locus is functionally silent and exists only because of linkage disequilibrium with selectable HLA alleles. This review presents a new analysis of the available data which suggests that polymorphism in the TNF-alpha promoter is not randomly distributed and therefore that it most likely does have some functional and selectable effect. Further, a comparison of available data suggests that there is more consensus in the literature than may at first appear to be the case. (C) 2000 Elsevier Science Ltd. All rights reserved.