Genotype frequencies of the+874T→A single nucleotide polymorphism in the first intron of the interferon-γ gene in a sample of Sicilian patients affected by tuberculosis
Genotype frequencies of the+874T→A single nucleotide polymorphism in the first intron of the interferon-γ gene in a sample of Sicilian patients affected by tuberculosis
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DOI：
10.1046/j.1365-2370.2002.00327.x
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发表时间：
2002-10-01
期刊：
影响因子：
--
通讯作者：
Caruso, C
中科院分区：
文献类型：
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作者：
Lio, D;Marino, V;Caruso, C
鉴于干扰素（IFN）-γ在结核病控制中的关键作用，本文对西西里岛结核病患者IFN-γ功能性+874T --> A单核苷酸多态性（SNP）的分布进行了评估。我们的目的是确定TT基因型（已被认为与IFN-γ产生增加有关）与慢性结核病抗性之间是否存在关联。从45名患者和97名健康对照中获得DNA样品。使用扩增难治性突变系统方法鉴定+874处的多态性。+874T SNP在患者中的频率低于对照组（0.42 vs. 0.50），但差异不显著。+874TT基因型，这已被认为是与高IFN-γ的生产，在患者中显着减少。因此，对慢性肺结核的耐药性可能与基因决定的高IFN-γ产生能力有关。总之，目前的数据为控制传染病所涉及的遗传和环境因素这一复杂难题提供了另一个证据。对细胞因子基因多态性的研究可以阐明影响对环境应激反应的类型和强度的反式相互作用基因的复杂网络，并可能有助于确定影响人类生存的遗传因素。
In the light of the key role played by interferon (IFN)-gamma in the control of tuberculosis, in the present paper we have evaluated the distribution of the functional +874T --> A IFN-gamma single nucleotide polymorphism (SNP) in Sicilian patients affected by tuberculosis. Our aim was to determine whether there is an association between the TT genotype, which has been suggested to be linked to an increased production of IFN-gamma, and resistance to chronic tuberculosis. DNA samples were obtained from 45 patients and 97 healthy controls. Polymorphism at +874 was identified using amplification refractory mutational system methodology. The +874T SNP was less frequent in patients than in controls (0.42 vs. 0.50) but the difference was not significant. The +874TT genotype, which has been suggested to be associated with high IFN-gamma production, was significantly decreased in the patients. Thus, resistance to chronic lung tuberculosis might be associated with a genetically determined high IFN-gamma production capacity. In conclusion, the present data add another piece of evidence to the complex puzzle of genetic and environmental factors involved in control of infectious diseases. Studies on cytokine gene polymorphisms may elucidate the complex network of trans -interactive genes influencing the type and strength of responses to environmental stressors and may help to identify the genetic factors that affect survival in humans.