Key Laboratory of Mycobacteria tuberculosis, Shanghai Pulmonary Hospital affiliated to Tongji University School of Medcine, Shanghai 200433, China.
Infect Genet Evol. 2010 May;10(4):517-21. doi: 10.1016/j.meegid.2010.02.006. Epub 2010 Feb 20.
BTNL2 gene, a MHC class II gene-linked butyrophilin family member, has been recently associated with the inflammatory autoimmune diseases, such as tuberculosis, sarcoidosis and leprosy. This diseases show phenotypic features of granulomatous disease. Multiple single nucleotide polymorphisms in BTNL2 have been investigated as a candidate gene for tuberculosis in a case-control association study in the South African Coloured population. But, no significant association was detected between any of the polymorphisms investigated and TB, including rs2076530 SNP that was previously found to be associated with sarcoidosis. In this study, we genotyped 6 SNPs using SNaPshot in 286 tuberculosis cases and 608 controls in Chinese. Our genetic study revealed a significant association between the rs3763313, rs9268494, rs9268492 SNPs in the BTNL2 gene and tuberculosis. And haplotypes 1-5, and 8 (C-A-G-T-G-A, C-A-G-T-G-G, C-A-T-G-C-A, C-A-T-G-C-G, and C-G-T-G-C-G, T-A-T-G-C-A) presented a significant association with susceptibility to tuberculosis. We found that BTNL2 gene was linked to tuberculosis in Chinese Han population.
BTNL2 基因是 MHC Ⅱ类基因连锁的 butyrophilin 家族成员，最近与炎症性自身免疫性疾病相关，如结核病、结节病和麻风病。这些疾病表现出肉芽肿性疾病的表型特征。在南非有色人种的病例对照关联研究中，BTNL2 中的多个单核苷酸多态性已被作为结核病的候选基因进行了研究。但是，在任何研究的多态性与结核病之间均未发现显著关联，包括先前与结节病相关的 rs2076530 SNP。在这项研究中，我们使用 SNaPshot 在 286 例结核病病例和 608 例对照中对 6 个 SNP 进行了基因分型。我们的遗传研究表明，BTNL2 基因中的 rs3763313、rs9268494 和 rs9268492 SNP 与结核病之间存在显著关联。并且单倍型 1-5 和 8（C-A-G-T-G-A、C-A-G-T-G-G、C-A-T-G-C-A、C-A-T-G-C-G 和 C-G-T-G-C-G、T-A-T-G-C-A）与结核病易感性呈显著关联。我们发现 BTNL2 基因与中国汉族人群的结核病有关。
