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CCL5启动子多态性与西班牙北部的肺结核有关。

Polymorphisms in CCL5 promoter are associated with pulmonary tuberculosis in northern Spain.

作者信息

Sánchez-Castañón M, Baquero I C, Sánchez-Velasco P, Fariñas M-C, Ausín F, Leyva-Cobián F, Ocejo-Vinyals J G

机构信息

Immunology Service, Department of Internal Medicine, Hospital Universitario 'Marqués de Valdecilla', Santander, Spain.

出版信息

Int J Tuberc Lung Dis. 2009 Apr;13(4):480-5.

Abstract

OBJECTIVE

To study whether two functional single nucleotide polymorphisms of the CC chemokine ligand 5 (CCL5) gene could affect susceptibility to pulmonary tuberculosis (TB) in a human immunodeficiency virus negative genetically homogeneous population, containing newly diagnosed patients with active disease.

DESIGN

Seventy-six patients with active pulmonary TB (PTB) and 157 healthy control subjects from Cantabria, northern Spain, were genotyped for the CCL5 -403G/A and -28C/G polymorphisms.

RESULTS

The frequency of the CCL5-403G/A and -28C/G promoter polymorphisms were significantly different between patients with active TB and control subjects. Three of the four possible haplotypes were also significantly different. The G/G-C/C diplotype was much more frequent in the healthy control group and the G/G-G/G and A/A-C/C diplotypes were more frequent in patients with PTB.

CONCLUSION

Our findings indicate that CCL5 may play a role in conferring susceptibility to active PTB. Thus, the -403G and -28C alleles, either separately or combined in the G-C haplotype and the GG/CC diplotype, may be related to protection against PTB. By contrast, the -403A and -28G alleles, the G-G or A-C haplotypes and the G/G-G/G and A/A-C/C diplotypes may confer susceptibility to PTB.

摘要

目的

在一个基因同质的人类免疫缺陷病毒阴性人群中,研究CC趋化因子配体5(CCL5)基因的两个功能性单核苷酸多态性是否会影响肺结核(TB)易感性,该人群包含新诊断的活动性疾病患者。

设计

对来自西班牙北部坎塔布里亚的76例活动性肺结核(PTB)患者和157名健康对照者进行CCL5 -403G/A和-28C/G多态性基因分型。

结果

活动性肺结核患者与对照者之间CCL5-403G/A和-28C/G启动子多态性频率存在显著差异。四种可能的单倍型中的三种也存在显著差异。G/G-C/C双倍型在健康对照组中更为常见,而G/G-G/G和A/A-C/C双倍型在PTB患者中更为常见。

结论

我们的研究结果表明CCL5可能在赋予活动性PTB易感性方面发挥作用。因此,-403G和-28C等位基因,无论是单独存在还是在G-C单倍型和GG/CC双倍型中组合存在,可能与预防PTB有关。相比之下,-403A和-28G等位基因、G-G或A-C单倍型以及G/G-G/G和A/A-C/C双倍型可能赋予PTB易感性。

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