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评估亚马逊地区麻风病患者白细胞介素 12 受体β 2 启动子区域的多态性。

Polymorphisms assessment in the promoter region of IL12RB2 in Amazon leprosy patients.

机构信息

Programa de Pós-graduação em Imunologia Básica e Aplicada - PPGIBA, Universidade Federal do Amazonas - UFAM, Manaus, Brazil.

Programa de Pós-graduação em Imunologia Básica e Aplicada - PPGIBA, Universidade Federal do Amazonas - UFAM, Manaus, Brazil; Instituto de Ciências Biológicas, Departamento de Parasitologia, UFAM, Manaus, Amazonas, Brazil.

出版信息

Hum Immunol. 2014 Jun;75(6):592-6. doi: 10.1016/j.humimm.2014.01.009. Epub 2014 Jan 30.

DOI:10.1016/j.humimm.2014.01.009
PMID:24486579
Abstract

Leprosy displays a wide clinical spectrum that is dependent of the type of immune response. We investigate here whether polymorphisms in the promoter region of the IL12RB2 gene are associated with susceptibility or resistance to clinical forms of leprosy. Nucleotide sequencing of the promoter region of IL12RB2 encompassing SNPs -1035 A/G, -1033 T/C, -1023 A/G, -650 del/G and -464 A/G was performed on DNA samples from 105 leprosy patients and 108 healthy controls. However, none of the SNPs were associated with susceptibility to the disease or any of its clinical forms. Similarly, haplotype analysis did not show any association. The haplotype -1035A/-1033T/-650G/-464A was prevalent, and homozygosity for this haplotype was associated to a lower distribution of CD4(+) T cells (p=0.041). Our data suggest that polymorphisms present in the promoter region of IL12RB2 may not be associated with susceptibility to leprosy or its clinical forms.

摘要

麻风病表现出广泛的临床谱,这取决于免疫反应的类型。我们在这里研究白细胞介素 12 受体β 2(IL12RB2)基因启动子区域的多态性是否与麻风病临床形式的易感性或抗性有关。对来自 105 例麻风病患者和 108 例健康对照者的 DNA 样本进行了 IL12RB2 启动子区域的核苷酸测序,包括 -1035A/G、-1033T/C、-1023A/G、-650del/G 和 -464A/G 在内的 SNPs。然而,没有一个 SNP 与疾病或其任何临床形式的易感性相关。同样,单倍型分析也没有显示任何关联。-1035A/-1033T/-650G/-464A 单倍型是常见的,这种单倍型的纯合性与 CD4+T 细胞的分布较低有关(p=0.041)。我们的数据表明,IL12RB2 基因启动子区域的多态性可能与麻风病或其临床形式的易感性无关。

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