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Original Article

Single nucleotide polymorphisms in the toll-like receptor 2 (TLR2) gene are associated with microscopic polyangiitis in the northern Han Chinese population

, , , , , , , , & show all
Pages 224-229 | Received 15 Jan 2014, Accepted 19 Jul 2014, Published online: 02 Sep 2014
 

Abstract

Objectives. Our study was designed to evaluate the association of single nucleotide polymorphisms (SNPs) of the TLR2 gene with antineutrophil cytoplasmic autoantibodies (ANCAs)-associated vasculitides (AAV) in the northern Han Chinese population.

Methods. The TLR2 SNPs rs1898830, rs11938228, rs3804099, rs3804100, and rs7656411 were analyzed in 195 AAV patients [granulomatosis with polyangiitis (GPA), n = 100; microscopic polyangiitis (MPA), n = 76; eosinophilic granulomatosis with polyangiitis (EGPA), n = 19] and 501 ethnically and geographically matched healthy controls. Genetic association analysis was carried out using PLINK (version 1.07). For multiple comparisons, a Bonferroni adjustment was conducted (pc = p*n, where n was the number of tested SNPs).

Results. The overall frequencies of alleles and genotypes of TLR2 polymorphisms did not differ significantly between AAV patients and controls. The C allele of rs3804100 and the haplotype (C-C) formed by rs3804100 and rs3804099, however, were over-represented in the MPA patient group (pc = 0.018, pc = 0.016, respectively). Moreover, the frequencies of the C allele of both rs3804100 and rs3804099 were higher in the anti-MPO ANCA positive subgroup vs. healthy controls (pc = 0.003, pc = 0.013, respectively).

Conclusions. We conclude that rs3804100 of TLR2 predisposes to MPA in northern Han Chinese. Future studies with larger sample sizes in the northern Han Chinese and other populations are required to extend and verify our current findings.

Acknowledgments

This work was supported by funding from the National Program on Key Research Project of New Drug Innovation No. 2012ZX09303006-002, the Research Special Fund for Public Welfare Industry of Health No. 201202004 and the National Natural Science Foundation of China Grants 81072486, 81172857, 81302592.

Conflict of interest

None.

Supplementary material available online

Supplementary Figure 1.

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