子痫前期患者细胞间粘附分子-1 K469E及血小板内皮细胞粘附分子-1 C373G的基因多态性

摘要

Objective To investigate the distributions of genotypic and allelic frequencies of intercellular adhesion molecule-1 (ICAM-1) gene K469E and platelet endothelial cell adhesion molecule-1 (PECAM-1) gene C373G in patients with preeclampsia. Methods Polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) and DNA sequencing were used for detecting ICAM-1 gene K469E and PECAM-1 gene C373G genotypes in 110 women with preeclampsia and 110 normotensive pregnant women in comparison with their clinical characteristics. Results The distributions of observed and expected genotype frequencies were consistent with Hardy-Weinberg equilibrium. No significant differences were found in the genotype and allele frequencies of ICAM-1 gene K469E between the two groups (P>0.05), but the CC and the CG genotype frequencies of PECAM-1 gene C373G were significantly different between them (P<0.05). The relative risk for preeclampsia of CG genotype was 1.959 folds of that in CC genotype carriers (OR=1.959, 95%CI:1.090-3.520, P=0.024), and this association still existed after adjustment for age, gravidity, parity and BMI in logistic regression models. The C373G allele frequencies showed no significant difference between the two groups (P>0.05). Conclusions The CG genotype of PECAM-1 gene C373G genetically predispose the carriers to preeclampsia, while ICAM-1gene K469E polymorphisms is not associated with preeclampsia.%目的：探讨细胞间粘附分子-1（ICAM-1）基因K469E多态性及血小板内皮细胞粘附分子-1（PECAM-1）基因C373G多态性各等位基因及基因型在子痫前期患者及健康孕妇中的分布频率，分析上述基因多态性与子痫前期的关系。方法采用聚合酶链反应-限制性片段多态性（PCR-RFLP）方法和DNA序列测序法对110名子痫前期患者及110名健康足月孕妇ICAM-1基因K469E位点及PECAM-1基因C373G位点进行检测，同时比较两组人群中的相关的临床资料。结果 ICAM-1基因K469E位点及PECAM-1基因C373G位点基因频率分布符合Hardy-Weinberg平衡定律，具有群体代表性。ICAM-1基因K469E位点基因型频率及等位基因频率在两组人群中均无显著差异（P>0.05）。PECAM-1基因C373G位点CC基因型和CG基因型在两组人群分布中存在显著差异（P<0.05）。CG基因型携带者患子痫前期的风险是CC基因型的1.959倍（OR=1.959，95%CI：1.090-3.520， P=0.024），且通过Logistic回归分析发现该相关性独立于孕妇年龄、孕次、产次及孕前BMI。C等位基因频率和G等位基因频率在两组人群的分布差异无统计学意义（P>0.05）。结论 PECAM-1基因C373G位点CG基因型携带者可能与子痫前期患者较高的遗传易感性相关，而ICAM-1基因K469E多态性则与子痫前期的发病无相关。