Möller Marlo, Kwiatkowski Ruta, Nebel Almut, van Helden Paul D, Hoal Eileen G, Schreiber Stefan
Molecular Biology and Human Genetics, MRC Centre for Molecular and Cellular Biology and the DST/NRF Centre of Excellence for Biomedical TB Research, Faculty of Health Sciences, P.O. Box 19063, Stellenbosch University, Tygerberg 7505, South Africa.
Microbes Infect. 2007 Apr;9(4):522-8. doi: 10.1016/j.micinf.2007.01.011. Epub 2007 Jan 27.
Tuberculosis and sarcoidosis show phenotypic features of granulomatous disease. The bacterium Mycobacterium tuberculosis can induce the expression of the sarcoidosis susceptibility gene BTNL2 in monocyte-derived macrophages. BTNL2 was therefore investigated as a candidate gene for tuberculosis in a case-control association study in the South African Coloured population. We sequenced the coding regions of BTNL2 to detect known and novel polymorphisms and genotyped 18 SNPs in 432 pulmonary tuberculosis cases and 482 controls. We did not find a significant association between the truncating rs2076530 SNP, previously associated with sarcoidosis, and tuberculosis. No association was found between any of the other SNPs studied and disease and none of the estimated haplotypes showed any association with TB. Comparative analyses with the South African data from this study and published data on German and American populations revealed that, for a segment of BTNL2, the admixed, but not stratified, South African population resembles the African-Americans more than white populations.
结核病和结节病表现出肉芽肿性疾病的表型特征。结核分枝杆菌可诱导单核细胞衍生巨噬细胞中结节病易感基因BTNL2的表达。因此，在南非有色人种人群的一项病例对照关联研究中，将BTNL2作为结核病的候选基因进行了研究。我们对BTNL2的编码区进行测序，以检测已知和新的多态性，并对432例肺结核病例和482例对照中的18个单核苷酸多态性（SNP）进行基因分型。我们未发现先前与结节病相关的截断型rs2076530 SNP与结核病之间存在显著关联。在所研究的其他任何SNP与疾病之间均未发现关联，并且估计的单倍型均未显示与结核病有任何关联。对本研究的南非数据与已发表的德国和美国人群数据进行的比较分析表明，对于BTNL2的一个片段，混合但未分层的南非人群与非裔美国人的相似性超过白人人群。
