Huang Hua-Tuo, Guo Jing, Xiang Yang, Chen Jian-Ming, Luo Hong-Cheng, Meng Lan-Qing, Wei Ye-Sheng
Department of Laboratory Medicine, Affiliated Hospital of Youjiang Medical University for Nationalities, Baise, Guangxi, China.
Department of Dermatology, Affiliated Hospital of Youjiang Medical University for Nationalities, Baise, Guangxi, China.
Genet Mol Biol. 2017 Apr-Jun;40(2):442-449. doi: 10.1590/1678-4685-GMB-2016-0212. Epub 2017 Jun 5.
Cluster of differentiation 40 (CD40), the receptor for CD154, is a member of the tumor necrosis factor (TNF) receptor superfamily. Several studies have been conducted to investigate the effect of the CD40 rs1883832 polymorphism on atherosclerotic disease in different population; however, inconsistent results were obtained. In this study, we investigated the association of four polymorphisms (rs1883832, rs13040307, rs752118 and rs3765459) of CD40 gene and their effect on CD40 expression with the risk of ischemic stroke (IS) in a Chinese population. Three hundred and eighty patients with IS and 450 control subjects were included in the study. The CD40 polymorphisms were discriminated by Snapshot SNP genotyping assay. Serum soluble CD40 (sCD40) levels were detected by ELISA. We found that the rs1883832CT and rs1883832TT genotypes were associated with an increased risk of IS compared with the rs1883832CC genotype (OR = 1.42, 95% CI: 1.03-1.95, p = 0.030 and OR = 1.91, 95% CI: 1.29-2.82, P = 0.001, respectively), and the rs1883832T allele was associated with a significantly increased risk of IS compared with rs1883832C allele (OR = 1.40, 95% CI: 1.15-1.70, P = 0.001). Elevated serum sCD40 levels were observed in patients with IS compared with the control gropu (P < 0.01). Individuals carrying the rs1883832TT or rs1883832CT genotypes showed significantly higher sCD40 levels compared with the rs1883832CC genotype in the IS group [(64.8 ± 25.4 pg/mL, TT = 94); (63.9 ± 24.3 pg/mL, CT = 185) vs (53.3 ± 22.5 pg/mL, CC = 101), P < 0.01]. The TCCA haplotype was associated with an increased risk of IS compared with the control group (OR = 2.10, 95% CI: 1.23-3.58, p = 0.005). However, we did not find a significant association between the other three polymorphisms and IS risk. In conclusion, after a comprehensive comparison with other studies, we confirmed that the rs1883832T allele but not the rs1883832C allele is associated with an increased risk of IS. The rs1883832 polymorphism may exert influences on abnormal CD40 expression in IS patients among the Chinese population.
分化簇40（CD40）是CD154的受体，属于肿瘤坏死因子（TNF）受体超家族成员。已有多项研究探讨CD40基因rs1883832多态性对不同人群动脉粥样硬化疾病的影响，但结果并不一致。在本研究中，我们调查了中国人群中CD40基因的4个多态性位点（rs1883832、rs13040307、rs752118和rs3765459）及其对CD40表达的影响与缺血性卒中（IS）风险的关系。本研究纳入了380例IS患者和450例对照。采用Snapshot SNP基因分型法鉴别CD40基因多态性。通过酶联免疫吸附测定法检测血清可溶性CD40（sCD40）水平。我们发现，与rs1883832CC基因型相比，rs1883832CT和rs1883832TT基因型与IS风险增加相关（OR分别为1.42，95%CI：1.03 - 1.95，p = 0.030；OR为1.91，95%CI：1.29 - 2.82，P = 0.001），与rs1883832C等位基因相比，rs1该研究纳入了380例IS患者和450例对照。采用Snapshot SNP基因分型法鉴别CD40基因多态性。通过酶联免疫吸附测定法检测血清可溶性CD40（sCD40）水平。我们发现，与rs1883832CC基因型相比，rs1883832CT和rs1883832TT基因型与IS风险增加相关（OR分别为1.42，95%CI：1.03 - 1.95，p = 0.030；OR为1.91，95%CI：1.29 - 2.82，P = 0.001），与rs1883832C等位基因相比，rs1883832T等位基因与IS风险显著增加相关（OR = 1.40，95%CI：1.15 - 1.70，P = 0.001）。与对照组相比，IS患者血清sCD40水平升高（P < 0.01）。在IS组中，携带rs1883832TT或rs1883832CT基因型的个体与rs1883832CC基因型相比，sCD40水平显著更高[（64.8 ± 25.4 pg/mL，TT = 94）；（63.9 ± 24.3 pg/mL，CT = 185）vs（53.3 ± 22.5 pg/mL，CC = 101），P < 0.01]。与对照组相比，TCCA单倍型与IS风险增加相关（OR = 2.10，95%CI：1.23 - 3.58，p = 0.005）。然而，我们未发现其他3个多态性位点与IS风险之间存在显著关联。总之，在与其他研究进行全面比较后，我们证实rs1883832T等位基因而非rs1883832C等位基因与IS风险增加相关。rs1883832多态性可能对中国人群IS患者CD40的异常表达产生影响。 883832T等位基因与IS风险显著增加相关（OR = 1.40，95%CI：1.15 - 1.70，P = 0.001）。与对照组相比，IS患者血清sCD40水平升高（P < 0.01）。在IS组中，携带rs1883832TT或rs1883832CT基因型的个体与rs1883832CC基因型相比，sCD40水平显著更高[（64.8 ± 25.4 pg/mL，TT = 94）；（63.9 ± 24.3 pg/mL，CT = 185）vs（53.3 ± 22.5 pg/mL，CC = 101）。与对照组相比，TCCA单倍型与IS风险增加相关（OR = 2.10，95%CI：1.23 - 3.58，p = 0.005）。然而，我们未发现其他3个多态性位点与IS风险之间存在显著关联。总之，在与其他研究进行全面比较后，我们证实rs1883832T等位基因而非rs1883832C等位基因与IS风险增加相关。rs1883832多态性可能对中国人群IS患者CD40的异常表达产生影响。P < 0.01]。与对照组相比，TCCA单倍型与IS风险增加相关（OR = 2.10，95%CI：1.23 - 3.58，p = 0.005）。然而，我们未发现其他3个多态性位点与IS风险之间存在显著关联。总之，在与其他研究进行全面比较后，我们证实rs1883832T等位基因而非rs1883832C等位基因与IS风险增加相关。rs1883832多态性可能对中国人群IS患者CD40的异常表达产生影响。
