PAPP-A基因多态性与子痫前期的相关性研究

Pregnancy-associated plasma protein-A polymorphism and the risk of pre-eclampsia

目的:探讨妊娠相关血浆蛋白A(PAPP-A)基因多态性与子痫前期的相关性。方法:采用聚合酶链反应-单链构象多态性(PCR-SSCP)对129例子痫前期患者(轻度子痫前期64例,重度子痫前期65例)和137例同期入院产检并在南京医科大学第一附属医院分娩的正常孕妇,进行PAPP-A基因位点S1224Y(A/C)(dbSNP:rs7020782)多态性的分析,比较各基因型及等位基因的频率在子痫前期组和正常组间、重度子痫前期组和轻度子痫前期组间的差别。结果:AC基因型频率在子痫前期组(44.2%)高于对照组(31.4%,P﹤0.05);AC基因型频率在重度子痫前期组(75.4%)明显高于轻度子痫前期组(12.5%,P﹤0.001);C等位基因频率在重度子痫前期组(40.8%)明显高于轻度子痫前期组(18.7%,P<0.001)。结论:PAPP-A基因位点S1224Y(A/C)的AC基因型,C等位基因可能是子痫前期的重要遗传危险因素,并与病情的严重程度相关。

Objective：To estimate whether PAPP-A （Pregnancy-associated plasma protein-A） polymorphism is associated with preeclampsia. Methods：By means of polymerase Chain Reaction and Single-Strand Conformation Polymorphism, S1224Y（A/C）（dbSNP： rs7020782） polymorphism in the PAPP-A gene was detected in 129 women with pre-eclampsia （64 with mild pre-eclampsia and 65 with severe pre-eclampsia） and 137 normal control women with uncomplicated pregnancy. Investigators were blinded to clinical outcomes. Results： AC genotype frequency in pre-eclampsia group were higher than those in control group （44.2% VS 31.4%） （P 〈 0.05）; AC genotype frequency in severe pre-eclampsia group were significantly higher than those in mild pre-eclampsia group （75.4% VS 12.5%）（P 〈 0.001 ）. C allele frequency in severe pre-eclampsia group were significantly higher than those in mild pre- eclampsia group （40.8% VS 18.7%）（P 〈 0.001 ）. Conclusion：The AC genotype and C allele of S 1224Y （A/C） polymorphism in the PAPP-A gene might be a risk genetic marker of pre-eclampsia. In patients with pre-eclampsia,there is the association between AC genotype and C allele of PAPP-A gene and severity of pre-eclampsia .