Analysis of the association between BTNL2 polymorphism and tuberculosis in Chinese Han population

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.