首页> 美国卫生研究院文献>PLoS Clinical Trials >Single nucleotide polymorphisms of the genes IL-2, IL-2RB, and JAK3 in patients with cutaneous leishmaniasis caused by Leishmania (V.) guyanensis in Manaus, Amazonas, Brazil
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Single nucleotide polymorphisms of the genes IL-2, IL-2RB, and JAK3 in patients with cutaneous leishmaniasis caused by Leishmania (V.) guyanensis in Manaus, Amazonas, Brazil

机译:巴西亚马逊州马瑙斯市由Leishmania(V.)Guyanensis引起的皮肤利什曼病患者的基因IL-2,IL-2RB和JAK3的单核苷酸多态性

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摘要

Leishmaniasis is a disease caused by intracellular protozoan parasites of the genus Leishmania. In endemic areas, only a portion of exposed subjects develops cutaneous leishmaniasis (CL), suggesting that the genetic inheritance of the host plays a vital role in both resistance and susceptibility to the disease. Interleukin-2 (IL-2) is a cytokine that plays a central role in the regulation of the immune response in infection through the axis IL-2/IL-2R (receptor) complex, triggering a series of intracellular events, among which the signaling of Janus kinase/signal transducers and activators of transcription (JAK-STAT). The present study aimed at verifying the possible relationship between single nucleotide polymorphism (s) (SNP s) in the genes IL-2, IL-2RB, and JAK3 in subjects with CL caused by Leishmania guyanensis in the city of Manaus, state of Amazonas, Brazil. 820 patients with CL and 850 healthy subjects (control group) coming from the same endemic areas as the patients were examined. The SNPs -2425G/A (rs4833248) and -330 T/G (rs2069762), located in the IL-2 gene promoter region, seem to influence the expression of the gene and the SNP +10558G/A (rs1003694) and +13295T/C (rs3212760) located in the 3rd intron of the IL-2RB gene and the 13th intron of the JAK3 gene, respectively, were studied by PCR-RFLP. Genotypes and alleles frequencies were obtained by direct counting. For the comparison between the two groups, the χ2 test with OR (odds ratio) and the 95% confidence interval (CI) were used. Similar genotypes and alleles frequencies for the different SNPs were observed in both patients with CL and healthy controls. Comparison of genotypic and allelic frequency between patients with CL and healthy subjects did not show any difference. These polymorphisms do not predict susceptibility to, or protection against the development of CL caused by L. guyanensis in the Amazonas.
机译:利什曼病是由利什曼原虫属的细胞内原生动物寄生虫引起的疾病。在流行地区,只有一部分暴露的受试者发展为皮肤利什曼病(CL),这表明宿主的遗传遗传在该病的耐药性和易感性中都起着至关重要的作用。白细胞介素2(IL-2)是一种细胞因子,在通过轴IL-2 / IL-2R(受体)复合物感染的免疫反应的调节中起着关键作用,引发一系列细胞内事件,其中Janus激酶/信号转导子和转录激活子(JAK-STAT)的信号转导。本研究旨在验证亚马尼亚州马瑙斯市由Leishmania Guyanensis导致的CL受试者中IL-2,IL-2RB和JAK3基因中单核苷酸多态性(SNP)的可能关系。 , 巴西。检查了820名CL患者和850名健康受试者(对照组),它们来自与患者相同的地方性疾病。位于IL-2基因启动子区域的SNP -2425G / A(rs4833248)和-330 T / G(rs2069762)似乎会影响该基因的表达,而SNP + 10558G / A(rs1003694)和+ 13295T通过PCR-RFLP研究分别位于IL-2RB基因的第3内含子和JAK3基因的第13内含子的/ C(rs3212760)。通过直接计数获得基因型和等位基因频率。为了进行两组之间的比较,使用了具有OR(比值比)和95%置信区间(CI)的χ2检验。在CL患者和健康对照者中均观察到了不同SNP的相似基因型和等位基因频率。 CL患者和健康受试者之间基因型和等位基因频率的比较未显示任何差异。这些多态性不能预测在亚马逊河地区对由盖伊乳杆菌引起的CL的易感性或对其的保护。

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