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来自坎塔布里亚(西班牙北部)的肺结核患者中甘露糖结合凝集素启动子多态性和基因变异

Mannose-binding lectin promoter polymorphisms and gene variants in pulmonary tuberculosis patients from cantabria (northern Spain).

作者信息

Ocejo-Vinyals J-Gonzalo, Lavín-Alconero Lucía, Sánchez-Velasco Pablo, Guerrero-Alonso M-Ángeles, Ausín Fernando, Fariñas M-Carmen, Leyva-Cobián Francisco

机构信息

Servicio de Inmunología, Hospital Universitario Marqués de Valdecilla, Avenida de Valdecilla s/n, 39008 Santander, Spain.

出版信息

Pulm Med. 2012;2012:469128. doi: 10.1155/2012/469128. Epub 2012 Dec 4.

Abstract

Mannose-binding lectin is a central molecule of the innate immune system. Mannose-binding lectin 2 promoter polymorphisms and structural variants have been associated with susceptibility to tuberculosis. However, contradictory results among different populations have been reported, resulting in no convincing evidence of association between mannose-binding lectin 2 and susceptibility to tuberculosis. For this reason, we conducted a study in a well genetically conserved Spanish population in order to shed light on this controversial association. We analysed the six promoter and structural mannose-binding lectin 2 gene variants in 107 patients with pulmonary tuberculosis and 441 healthy controls. Only D variant and HYPD haplotype were significantly more frequents in controls which would indicate that this allele could confer protection against pulmonary tuberculosis, but this difference disappeared after statistical correction. Neither the rest of alleles nor the haplotypes were significantly associated with the disease. These results would indicate that mannose-binding lectin promoter polymorphisms and gene variants would not be associated with an increased risk to pulmonary tuberculosis. Despite the slight trend of the D allele and HYPD haplotype in conferring protection against pulmonary tuberculosis, susceptibility to this disease would probably be due to other genetic factors, at least in our population.

摘要

甘露糖结合凝集素是先天性免疫系统的核心分子。甘露糖结合凝集素2启动子多态性和结构变异与结核病易感性相关。然而,不同人群中报道了相互矛盾的结果,导致没有令人信服的证据表明甘露糖结合凝集素2与结核病易感性之间存在关联。因此,我们在基因高度保守的西班牙人群中进行了一项研究,以阐明这一有争议的关联。我们分析了107例肺结核患者和441例健康对照中甘露糖结合凝集素2基因的六个启动子和结构变异。仅D变异和HYPD单倍型在对照中显著更常见,这表明该等位基因可能对肺结核具有保护作用,但经统计学校正后这种差异消失。其余等位基因和单倍型均与疾病无显著关联。这些结果表明,甘露糖结合凝集素启动子多态性和基因变异与肺结核风险增加无关。尽管D等位基因和HYPD单倍型在对肺结核的保护作用上有轻微趋势,但对该疾病的易感性可能至少在我们的人群中是由其他遗传因素引起的。

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