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Gene. 2014 Jan 1;533(1):385-8. doi: 10.1016/j.gene.2013.08.051. Epub 2013 Sep 1.

Association study of TLR-9 polymorphisms and systemic lupus erythematosus in northern Chinese Han population.

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The Department of Rheumatology, the Second Affiliated Hospital of Harbin Medical University, Harbin 150086, China. Electronic address:



Systemic lupus erythematosus (SLE) is an autoimmune disease, with multiple genetic and environmental factors involving in its etiology. The toll-like receptor 9 (TLR9) gene has been reported to have important roles in the development and progression of SLE. We performed a case-control study to investigate the effects of 4 SNPs in the TLR9 gene in the development of SLE in Northern Chinese population.


Four SNPs including rs187084, rs5743836, rs352139 and rs352140 were genotyped using the SNaPshot® method. A group of 430 SLE patients were compared to 424 normal controls. Data were analyzed by SPSS 17.0 and HaploView v 4.1 software.


The frequency distributions of SNP rs351240 and haplotype H2 (TGCT) and H3 (CATT) were found to differ significantly between patient and control groups (p<0.05), while other SNPs and haplotypes showed no significant difference between the two cohorts (p>0.05).


The results revealed that variations in the TLR9 gene are associated with SLE, indicating that TLR9 may play an important role in the pathogenesis of SLE in the northern Chinese Han population.


Association study; CI; HWE; Hardy–Weinberg equilibrium; Northern Chinese Han; OR; PRRs; Polymorphism; SLE; SNP; TLR9; TLR9 gene; confidence interval; odds ratio; pattern-recognition receptors; single nuclear polymorphism; systemic lupus erythematosus; toll-like receptor 9

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