The association of CD40 polymorphisms with CD40 serum levels and risk of systemic lupus erythematosus.
The association of CD40 polymorphisms with CD40 serum levels and risk of systemic lupus erythematosus.
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CD40 多态性与 CD40 血清水平和系统性红斑狼疮风险的关联。
DOI：
10.1186/s12863-015-0279-8
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发表时间：
2015-10-16
期刊：
影响因子：
2.9
通讯作者：
Lan Y
中科院分区：
文献类型：
--
作者：
Chen JM;Guo J;Wei CD;Wang CF;Luo HC;Wei YS;Lan Y
目前的研究表明，CD 40-CD 40配体（CD 40-CD 40 L）系统在系统性红斑狼疮（SLE）的发生、发展和转归中起着至关重要的作用。本研究旨在探讨CD 40基因单核苷酸多态性（SNP）是否与中国人SLE及CD 40表达相关。我们纳入了对照组（n = 220）和SLE患者（n =205）。使用快照SNP基因分型测定测定基因多态性，并通过测序确认。我们分析了205例SLE患者和220名年龄、性别匹配的对照者的CD 40基因rs 1883832 C/T、rs 1569723 A/C和rs 4810485 G/T三个单核苷酸多态性。通过ELISA测量可溶性CD 40（sCD 40）水平。SLE组与对照组CD 40基因rs 1883832 C/T多态性的基因型和等位基因频率差异有统计学意义（P < 0.05）。SLE患者血清sCD 40水平明显高于对照组（P < 0.01）。此外，与纯合野生型基因型相比，携带CD 40 rs 1883832 C/T变异等位基因的基因型与SLE患者CD 40水平升高相关。CD 40基因rs 1883832 C/T多态性及其sCD 40水平与中国人群SLE相关。提示CD 40基因可能在中国人SLE发病中起一定作用。
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.