Molecular Biology Reports

, Volume 36, Issue 8, pp 2245–2248

Association study of a single nucleotide polymorphism in the exon 2 region of toll-like receptor 9 (TLR9) gene with susceptibility to systemic lupus erythematosus among Chinese

Authors

  • Chang-Juan Xu
    • Department of Epidemiology and Biostatistics, School of Public HealthAnhui Medical University
  • Wen-Hui Zhang
    • Department of Epidemiology and Biostatistics, School of Public HealthAnhui Medical University
  • Hai-Feng Pan
    • Department of Epidemiology and Biostatistics, School of Public HealthAnhui Medical University
  • Xiang-Pei Li
    • Department of RheumatologyAnhui Provincial Hospital
  • Jian-Hua Xu
    • Department of Rheumatology, First Affiliated HospitalAnhui Medical University
    • Department of Epidemiology and Biostatistics, School of Public HealthAnhui Medical University
Article

DOI: 10.1007/s11033-008-9440-z

Cite this article as:
Xu, C., Zhang, W., Pan, H. et al. Mol Biol Rep (2009) 36: 2245. doi:10.1007/s11033-008-9440-z

Abstract

Toll-like receptor 9 (TLR9) plays an important role in the induction and regulation of the innate immune system or adaptive immune responses. Genetic variations within human TLR9 have been reported to be associated with a range of immune-related diseases, such as asthma, systemic lupus erythematosus (SLE) and so on. Family-based association analysis was performed to further investigate whether a single nucleotide polymorphism (rs352140) in the exon 2 region of TLR9 gene is associated with susceptibility to SLE in a Chinese population. A total of 77 patients with SLE from 74 nuclear families, aged from 12 to 63 years, were enrolled according to 1997 criteria of American College of Rheumatology (ACR), 211 family members of these patients were also included. Genotyping was performed by PCR-restriction fragment length polymorphism (PCR-RFLP) assay. Among 77 patients with SLE, the CC, CT and TT genetype frequencies of the SNP (rs352140) were 20.8, 61.0 and 18.2%, respectively. Single loci analysis suggested that the T allele at position of rs352140 was significantly associated with the susceptibility to SLE (Z = 2.357, P = 0.018402) in dominant model, but not in additive or recessive model. Genetype analysis showed that individuals with CT genetype had greater susceptibility to SLE than those without (Z = 2.004, P = 0.045067). Our study suggests that a single nucleotide polymorphism (rs352140) in the exon 2 region of TLR9 gene may be a susceptibility factor for SLE in Chinese population.

Keywords

Systemic lupus erythematosusPolymorphismSingle nucleotideTLR9exon 2

Copyright information

© Springer Science+Business Media B.V. 2009