Human genetics of mycobacterial disease.
Human genetics of mycobacterial disease.
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DOI：
10.1007/s00335-018-9765-4
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发表时间：
2018-08
期刊：
影响因子：
--
通讯作者：
Schurr E
中科院分区：
文献类型：
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作者：
Dallmann-Sauer M;Correa-Macedo W;Schurr E
分枝杆菌疾病是由分枝杆菌属的成员引起的，分枝杆菌是一种抗酸细菌，其特征是细胞壁中存在分枝杆菌酸。结核病(TB)每年夺走近200万人的生命，是最常见的分枝杆菌疾病，由结核分枝杆菌感染引起，在极少数情况下，由牛分枝杆菌或非洲分枝杆菌引起。第二和第三种最常见的分枝杆菌疾病分别是麻风病和布鲁里溃疡(BU)。这两种疾病都会影响皮肤，并可能导致永久性后遗症和畸形。麻风是由不可培养的麻风分支杆菌引起的，而BU的病原体是环境细菌溃烂分支杆菌。在接触到这些分枝杆菌后，大多数人不会发展为临床疾病，在那些发展到临床疾病的人中，可以观察到疾病表现和结果的个体间差异。分枝杆菌疾病的易感性与人类的遗传因素有关，过去几十年来，为破译控制疾病易感性的遗传因素的确切性质，人们进行了大量的努力。虽然对于BU来说，这种搜索主要是在候选基因关联研究的基础上进行的，但全基因组方法已广泛应用于结核病和麻风。在这篇综述中，我们总结了通过全基因组连锁、关联和转录组分析在结核病和麻风中所取得的一些发现，以及最近关于BU易感性的遗传学发现。
Mycobacterial diseases are caused by members of the genus Mycobacterium, acid-fast bacteria characterized by the presence of mycolic acids within their cell walls. Claiming almost 2 million lives every year, tuberculosis (TB) is the most common mycobacterial disease and is caused by infection with M. tuberculosis and, in rare cases, by M. bovis or M. africanum. The second and third most common mycobacterial diseases are leprosy and buruli ulcer (BU), respectively. Both diseases affect the skin and can lead to permanent sequelae and deformities. Leprosy is caused by the uncultivable M. leprae while the etiological agent of BU is the environmental bacterium M. ulcerans. After exposure to these mycobacterial species, a majority of individuals will not progress to clinical disease and, among those who do, inter-individual variability in disease manifestation and outcome can be observed. Susceptibility to mycobacterial diseases carries a human genetic component and intense efforts have been applied over the past decades to decipher the exact nature of the genetic factors controlling disease susceptibility. While for BU this search was mostly conducted on the basis of candidate genes association studies, genome-wide approaches have been widely applied for TB and leprosy. In this review, we summarize some of the findings achieved by genome-wide linkage, association and transcriptome analyses in TB disease and leprosy and the recent genetic findings for BU susceptibility.
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DOI：
10.1086/651559
发表时间：
2010-05-01
期刊：
The Journal of infectious diseases
影响因子：
--
作者：
Berrington WR;Macdonald M;Khadge S;Sapkota BR;Janer M;Hagge DA;Kaplan G;Hawn TR
通讯作者：
Hawn TR
影响因子：
3.7
作者：
Belone Ade F;Rosa PS;Trombone AP;Fachin LR;Guidella CC;Ura S;Barreto JA;Pinilla MG;de Carvalho AF;Carraro DM;Soares FA;Soares CT
通讯作者：
Soares CT
影响因子：
5.3
作者：
Alter A;de Léséleuc L;Van Thuc N;Thai VH;Huong NT;Ba NN;Cardoso CC;Grant AV;Abel L;Moraes MO;Alcaïs A;Schurr E
通讯作者：
Schurr E
影响因子：
5.3
作者：
Alter, Andrea;Fava, Vinicius Medeiros;Schurr, Erwin
通讯作者：
Schurr, Erwin
影响因子：
64.8
作者：
通讯作者：
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