Title |
The association of CD40 polymorphisms with CD40 serum levels and risk of systemic lupus erythematosus
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Published in |
BMC Genomic Data, October 2015
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DOI | 10.1186/s12863-015-0279-8 |
Pubmed ID | |
Authors |
Jian-Ming Chen, Jing Guo, Chuan-Dong Wei, Chun-Fang Wang, Hong-Cheng Luo, Ye-Sheng Wei, Yan Lan |
Abstract |
Current evidence shows that the CD40-CD40 ligand (CD40-CD40L) system plays a crucial role in the development, progression and outcome of systemic lupus erythematosus (SLE). The aim of this study was to investigate whether a CD40 gene single nucleotide polymorphism (SNP) is associated with SLE and CD40 expression in the Chinese population. We included controls (n = 220) and patients with either SLE (n =205) in the study. The gene polymorphism was measured using Snapshot SNP genotyping assays and confirmed by sequencing. We analyzed three single nucleotide polymorphisms of CD40 gene rs1883832C/T, rs1569723A/C and rs4810485G/T in 205 patients with SLE and 220 age-and sex-matched controls. Soluble CD40 (sCD40) levels were measured by ELISA. There were significant differences in the genotype and allele frequencies of CD40 gene rs1883832C/T polymorphism between the group of patients with SLE and the control group (P < 0.05). sCD40 levels were increased in patients with SLE compared with controls (P < 0.01). Moreover, genotypes carrying the CD40 rs1883832 C/T variant allele were associated with increased CD40 levels compared to the homozygous wild-type genotype in patients with SLE. The rs1883832C/T polymorphism of CD40 and its sCD40 levels were associated with SLE in the Chinese population. Our results suggest that CD40 gene may play a role in the development of SLE in the Chinese population. |
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