Association between tuberculosis and a polymorphic NFκB binding site in the interferon γ gene
Association between tuberculosis and a polymorphic NFκB binding site in the interferon γ gene
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DOI：
10.1016/s0140-6736(03)13491-5
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发表时间：
2003-05-31
期刊：
影响因子：
168.9
通讯作者：
Hoal, EG
中科院分区：
文献类型：
--
作者：
Rossouw, M;Nel, HJ;Hoal, EG
干扰素伽马被认为对宿主防御许多感染至关重要。为了验证干扰素-γ基因(IFNG)的多态与结核病易感性相关的假设，我们进行了两项独立的研究。在一项对313例肺结核病例的病例对照研究中，我们注意到IFNG基因+874A-->；T多态与南非人群中的结核病之间存在显著的关联(p=0.0055)。这一发现在一项以家庭为基础的研究中得到了重复，在该研究中，对131个家庭进行了传递不平衡检验(p=0.005)。转录因子NFkappaB优先与+874T等位基因结合，该等位基因在对照组中过度表达。这种优先结合表明，干扰素伽马和表达的基因决定的变异性可能对结核病的发展很重要。
Interferon gamma is believed to be crucial for host defence against many infections. To test the hypothesis that a polymorphism in the gene for interferon gamma (IFNG) is associated with susceptibility to tuberculosis, we did two independent investigations. In a case-control study of 313 tuberculosis cases, we noted a significant association between a polymorphism (+874A-->T) in IFNG and tuberculosis in a South African population (p=0.0055). This finding was replicated in a family-based study, in which the transmission disequilibrium test was used in 131 families (p=0.005). The transcription factor NFkappaB binds preferentially to the +874T allele, which is over-represented in controls. This preferential binding suggests that genetically determined variability in interferon gamma and expression might be important for the development of tuberculosis.