Horstmann R D
Bernhard-Nocht-Institut für Tropenmedizin, Hamburg.
Internist (Berl). 2003 Nov;44(11):1385-93. doi: 10.1007/s00108-003-1037-y.
As shown in twin studies, the inherited predisposition plays an important role in tuberculosis. Genetic influences may be specified in two ways. First, variants of genes whose products are involved in apparently disease-relevant pathways may be tested in population-based studies. Applying this approach, associations with pulmonary tuberculosis have been reported for variants of the genes encoding mannose-binding protein, the vitamin-D receptor, natural-resistance associated macrophage protein 1, interferon-gamma, of HLA alleles and of the interleukin-1 gene cluster. Second, genetic influences can be identified by genome-wide studies of members of affected families. Thus, linkage has been found between pulmonary tuberculosis and as yet undefined genetic variants on chromosome 15q and the X chromosome. Further genomic regions of interest have been identified in mouse models.
如双胞胎研究所示,遗传易感性在结核病中起重要作用。遗传影响可通过两种方式确定。首先,其产物参与明显与疾病相关途径的基因变体可在基于人群的研究中进行检测。采用这种方法,已报道编码甘露糖结合蛋白、维生素D受体、天然抗性相关巨噬细胞蛋白1、干扰素-γ的基因变体、HLA等位基因以及白细胞介素-1基因簇与肺结核有关联。其次,可通过对受影响家族成员进行全基因组研究来识别遗传影响。因此,已发现肺结核与15号染色体q臂和X染色体上尚未明确的遗传变体之间存在连锁关系。在小鼠模型中还确定了其他感兴趣的基因组区域。