Department of Medicine, The Affiliated Hospital of Jiangsu University, 438 Jiefang Road, 212001, Zhenjiang, Jiangsu Province, People's Republic of China.
Clin Exp Med. 2010 Dec;10(4):253-8. doi: 10.1007/s10238-010-0092-7. Epub 2010 Feb 2.
Current evidence shows that the CD40-CD40 ligand (CD40-CD40L) system plays a crucial role in the development, progression and outcome of acute coronary syndrome (ACS). The aim of this study is to investigate whether a CD40 gene (-1C/T) single nucleotide polymorphism (SNP) is associated with ACS and CD40 expression. We included controls (n = 163) and patients with either ACS (n = 210) or stable angina (SA, n = 189) in the study. The gene polymorphism was measured using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and identified by sequencing. CD40 expression on platelets was detected by flow cytometry. The results showed that the frequency of the CC genotype of CD40 gene in the ACS group was significantly higher than in the SA and control groups (P < 0.001), while the TT genotype frequency in the ACS group was significantly lower than that of the SA and control groups (P < 0.001). The C-allele frequency of the ACS group was higher than that of the SA and control groups (P < 0.001). The C allele increased the risk of ACS when compared with the SA group (OR = 1.841, 95% CI: 1.390-2.437) and the control groups (OR = 1.877, 95% CI: 1.402-2.515). No significant differences in genotypes or allele frequencies were found between the SA and control groups. CD40 expression on platelets in patients with C-allele carriers was significant higher than in the T-allele carriers in each group. In conclusion, our results suggested that the CD40 gene (-1C/T) polymorphism was associated with ACS in Chinese people. The -1C-allele gene carriers had a higher expression of CD40 and an increased risk of suffering from ACS.
目前的证据表明，CD40-CD40 配体（CD40-CD40L）系统在急性冠状动脉综合征（ACS）的发展、进展和结局中起着至关重要的作用。本研究旨在探讨 CD40 基因（-1C/T）单核苷酸多态性（SNP）是否与 ACS 和 CD40 表达有关。我们将对照组（n=163）和 ACS 患者（n=210）或稳定型心绞痛（SA，n=189）患者纳入研究。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）法检测基因多态性，并通过测序进行鉴定。通过流式细胞术检测血小板上 CD40 的表达。结果显示，ACS 组 CD40 基因 CC 基因型的频率明显高于 SA 组和对照组（P＜0.001），而 ACS 组 TT 基因型的频率明显低于 SA 组和对照组（P＜0.001）。ACS 组 C 等位基因的频率高于 SA 组和对照组（P＜0.001）。与 SA 组（OR=1.841，95%CI：1.390-2.437）和对照组（OR=1.877，95%CI：1.402-2.515）相比，C 等位基因增加了 ACS 的发病风险。SA 组和对照组之间的基因型或等位基因频率无显著差异。各组中 C 等位基因携带者的血小板 CD40 表达明显高于 T 等位基因携带者。结论：我们的研究结果表明，CD40 基因（-1C/T）多态性与中国人 ACS 相关。-1C 等位基因携带者 CD40 表达较高，ACS 发病风险增加。
