A CTLA-4 gene polymorphism at position-318 in the promoter region affects the expression of protein
A CTLA-4 gene polymorphism at position-318 in the promoter region affects the expression of protein
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DOI：
10.1038/sj.gene.6363869
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发表时间：
2002-06-01
影响因子：
5
通讯作者：
Lefvert, AK
中科院分区：
文献类型：
--
作者：
Wang, XB;Zhao, X;Lefvert, AK
CTLA-4是免疫系统重要的负调节因子。 CTLA-4 基因 (Ctla-4) 转录的调控尚不清楚。 Ctla-4 启动子区域 -318 处的单核苷酸多态性 (SNP) 与某些自身免疫性疾病相关。由于-318 SNP出现在潜在的调控区域中，因此可以想象C'T转变可能会影响Ctla-4的表达。在本研究中，我们表明 -318T 等位基因与比 -318C 等位基因更高的启动子活性相关（8.13 +/- 0.46 vs 6.87 +/- 0.49）。因此，-318T 等位基因的存在可能有助于 CTLA-4 表达的上调，因此代表了抑制过度免疫活性的一种机制。
CTLA-4 is an important negative regulator of the immune system. The regulation of the CTLA-4 gene (Ctla-4) transcription is poorly understood. A single nucleotide polymorphism (SNP) at -318 in the Ctla-4 promoter region is associated with certain autoimmune diseases. Since the -318 SNP occurs in a potential regulatory region, it is conceivable that the C' T transition may affect the expression of Ctla-4. In the present study, we show that the -318T allele is associated with a higher promoter activity than the -318C allele (8.13 +/- 0.46 vs 6.87 +/- 0.49). The presence of the -318T allele may thus contribute to up regulation of the expression of CTLA-4, and consequently represent one mechanism to inhibit exaggerated immune activity.