02071nas a2200373 4500000000100000008004100001260001300042653001000055653001800065653002500083653002800108653001000136653001100146653001900157653003800176653001500214653001100229653002700240653000900267653002700276653003600303653001700339653001700356100001100373700001000384700001000394700001000404700001000414245010300424300001100527490000700538520113800545022001401683 2010 d c2010 May10aAdult10aButyrophilins10aCase-Control Studies10aChi-Square Distribution10aChina10aFemale10aGene Frequency10aGenetic Predisposition to Disease10aHaplotypes10aHumans10aLinkage Disequilibrium10aMale10aMembrane Glycoproteins10aPolymorphism, Single Nucleotide10aSouth Africa10aTuberculosis1 aLian Y1 aYue J1 aHan M1 aLiu J1 aLiu L00aAnalysis of the association between BTNL2 polymorphism and tuberculosis in Chinese Han population. a517-210 v103 a

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.

 a1567-7257