Analysis of the association between BTNL2 polymorphism and tuberculosis in Chinese Han population
INFECTION GENETICS AND EVOLUTION
Authors: Lian, Yuanyuan; Yue, Jun; Han, Ming; Liu, Jianfang; Liu, Lirong
Abstract
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. (C) 2010 Elsevier B.V. All rights reserved.
LACK OF CORRELATION OF BTNL2 POLYMORPHISM AND CANCER RISK IN SARCOIDOSIS. BTNL2 AND CANCER RISK IN SARCOIDOSIS
SARCOIDOSIS VASCULITIS AND DIFFUSE LUNG DISEASES
Authors: Gaillot-Drevon, M.; Calender, A.; Blay, J. Y.; Valeyre, D.; Israel-Biet, D.; Roy, P.; Pacheco, Y.
Abstract
Background: Sarcoidosis is a polygenic immune disorder disease with predominant manifestations in the lung. BTNL2 gene polymorphisms were previously linked to susceptibility to sarcoidosis. Relationships between sarcoidosis and cancers have been suspected for a long time but little evidence has been reported until now, and recent works show a link between butyrophilin family proteins and anti tumor immunity. Methods: We studied the polymorphism of the rs2076530 SNP of BTNL2 gene in 35 patients with sarcoidosis and cancer compared to 340 sarcoidosis without cancer, 271 controls and 32 cancer matched controls. Results: We found no association between BTNL2 genotype and cancer risk in sarcoidosis (OR: 2,34; CI95%: 1,30 - 4,20; p = 0,15). Sarcoidosis is associated with the rs2076530SNP of BTNL2 gene. The AA genotype is significantly associated with a 3 more increased risk of sarcoidosis compared to the GG genotype in a co-dominant model (OR: 3,22; CI95%: 2,58 - 4,06; p < 0.0001). The AG genotype is associated with a 1,8 more increased risk (OR: 1,79; CI95%: 1,42 - 2,26). Conclusions: These results confirm the association of BTNL2 rs2076530SNP with the susceptibility to develop sarcoidosis, but not with an increased risk of cancer in these patients.