Department of Pharmacy, The Third Xiangya Hospital, Central South University, Changsha, Hunan, China.
Int Immunopharmacol. 2013 Aug;16(4):461-5. doi: 10.1016/j.intimp.2013.04.028. Epub 2013 May 10.
This study aims to determine whether functional polymorphism of CD40 is associated with the cerebral infarction (CI) susceptibility, and to investigate the effect of CD40 gene polymorphism on CD40 mRNA expression in PBMCs and plasma sCD40L concentration. A case-control study was performed in 402 CI patients and 693 controls. Genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The expressions of CD40 mRNA and plasma sCD40L concentration were determined. The distribution of TT genotype and the frequency of T allele in CI patients were significantly higher than those in the controls (P<0.05). The frequency of T allele was also significantly higher in the male subjects and the elder subjects (P<0.05) when stratified analysis was carried out. The PBMCs from CI patients showed significantly higher CD40 mRNA expression than controls (P<0.01), the CD40 mRNA expression from TT genotype was higher than other genotypes (P<0.05). TT genotype subjects also showed the highest plasma sCD40L concentration in the male CI patients (P<0.01). CD40 -1C/T polymorphism may interfere CI susceptibility, and the T allele may be associated with increased risk of CI. The CD40 -1C/T polymorphism is also a regulator of CD40 expression and plasma sCD40L concentration.
本研究旨在探讨 CD40 功能多态性与脑梗死（CI）易感性的关系，并研究 CD40 基因多态性对 PBMCs 中 CD40mRNA 表达和血浆可溶性 CD40L 浓度的影响。采用病例对照研究方法，选择 402 例 CI 患者和 693 例对照。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法进行基因分型。检测 CD40mRNA 表达和血浆可溶性 CD40L 浓度。CI 患者 TT 基因型和 T 等位基因的分布频率明显高于对照组（P<0.05）。分层分析显示，男性和老年患者 T 等位基因频率也明显升高（P<0.05）。CI 患者 PBMCs 中 CD40mRNA 表达明显高于对照组（P<0.01），TT 基因型的 CD40mRNA 表达高于其他基因型（P<0.05）。TT 基因型患者的男性 CI 患者血浆可溶性 CD40L 浓度也最高（P<0.01）。CD40-1C/T 多态性可能干扰 CI 易感性，T 等位基因可能与 CI 发病风险增加有关。CD40-1C/T 多态性也是 CD40 表达和血浆可溶性 CD40L 浓度的调节因子。
