Article

Molecular Biology Reports

, Volume 36, Issue 8, pp 2245-2248

First online:

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

  • Chang-Juan XuAffiliated withDepartment of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University
  • , Wen-Hui ZhangAffiliated withDepartment of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University
  • , Hai-Feng PanAffiliated withDepartment of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University
  • , Xiang-Pei LiAffiliated withDepartment of Rheumatology, Anhui Provincial Hospital
  • , Jian-Hua XuAffiliated withDepartment of Rheumatology, First Affiliated Hospital, Anhui Medical University
  • , Dong-Qing YeAffiliated withDepartment of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University Email author 

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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 erythematosus Polymorphism Single nucleotide TLR9 exon 2