Cytokine Gene Polymorphisms in Common Variable Immunodeficiency
Cytokine Gene Polymorphisms in Common Variable Immunodeficiency
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常见变异性免疫缺陷的细胞因子基因多态性
DOI：
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发表时间：
2009
影响因子：
2.8
通讯作者：
A. Amirzargar
中科院分区：
文献类型：
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作者：
N. Rezaei;A. Aghamohammadi;Y. Shakiba;M. Mahmoudi;A. Jalali;B. Moradi;A. Amirzargar
常见变异型免疫缺陷（CVID）是一组异质性疾病，其特征是低丙种球蛋白血症和对复发性感染、自身免疫和癌症的易感性增加。关于CVID患者的细胞因子谱存在一些相互矛盾的结果。虽然细胞因子的产生可能与基因多态性有关，但本研究分析了许多细胞因子的遗传特征。对30例CVID患者和140例正常对照者的白细胞介素（IL）-2、IL-12、γ-干扰素（IFN-γ）和转化生长因子（TGF-β）基因多态性进行了等位基因和基因型频率分析。与对照组相比，患者组中+915位点的TGF-β CG基因型的频率显著过高，而+869位点的TGF-β TT和+915位点的GG基因型的频率显著降低。TGF-β TC和IL-2 GT是最常见的单倍型，而TGF-β TG单倍型在患者组中显著减少。患者和对照组中UTR +5644位干扰素-γ和-1188位IL-12的等位基因和基因型频率相似。细胞因子单核苷酸多态性可能在CVID的病理生理中发挥作用。考虑到TGF-β的高产量单倍型（TG）的频率显著较低，而低产量单倍型（TC）的频率较高，预计在一些CVID患者中该细胞因子的产量较低。
Common variable immunodeficiency (CVID) is a heterogeneous group of disorders, characterized by hypogammaglobulinemia and an increased susceptibility to recurrent infections, autoimmunity and cancers. There are some conflicting results regarding the cytokine profile of CVID patients. While cytokine production could be associated with gene polymorphism, genetic profiles of a number of cytokines were analyzed in this study. The allele and genotype frequencies of the polymorphic genes coding for interleukin (IL)-2, IL-12, interferon-γ and transforming growth factor (TGF)-β were investigated in 30 patients with CVID in comparison with 140 controls. The genotype TGF-β CG at position +915 was significantly overrepresented in the patient group, while the frequencies of the genotypes TGF-β TT at +869 and GG at +915 were significantly decreased in the patient group in comparison with controls. TGF-β TC and IL-2 GT were the most frequent haplotypes in the patients, whereas the TGF-β TG haplotype was significantly decreased in the patient group. The allele and genotype frequencies of interferon-γ at position UTR +5644 and also IL-12 at position –1188 were similar in patients and controls. Cytokine single nucleotide polymorphisms could play a role in the pathophysiology of CVID. Considering the significantly lower frequency of the high production haplotype (TG) and the higher frequency of the low production halplotype (TC) of TGF-β, low production of this cytokine is expected in some CVID patients.