土耳其人群中激活素 A 受体 2A 基因突变影响子痫前期的发病时间和严重程度。

Polymorphisms in the activin A receptor type 2A gene affect the onset time and severity of preeclampsia in the Turkish population.

机构信息

Department of Obstetrics and Gynecology, Ege University School of Medicine, Bornova, Izmir 35100, Turkey.

出版信息

J Perinat Med. 2013 Jul;41(4):389-99. doi: 10.1515/jpm-2012-0187.

DOI:10.1515/jpm-2012-0187

PMID:23633461

Abstract

AIM

To investigate the possible roles of selected single nucleotide gene polymorphisms (SNPs) of the activin A receptor type 2A (ACVR2A) gene in the pathogenesis of preeclampsia.

METHODS

Ninety-four patients with preeclampsia and 166 healthy pregnant women were included in this study. Genomic DNA was extracted from venous blood and were stored at -80°C before the analysis. Selected ACVR2A SNPs (rs10497025, rs1128919, rs13430086) were determined in an ABI 7900 HT Real-Time PCR instrument.

RESULTS

For all three SNPs, no statistically significant difference was found between preeclampsia and control groups in terms of genotype and allele frequencies. In the late preeclampsia group, with regard to the rs1128919 SNP, the frequency of GG genotype was found to be significantly lower (P=0.02). Although the frequency of "A" allele was found to be higher (P=0.05; OR=1.54), and the "G" allele was found to be lower (P=0.05; OR=0.65), the results did not reach statistical significance in late preeclamptic patients. For the rs1128919 SNP, the frequency of the AA genotype was found to be significantly higher in both mild (P=0.004) and severe (P=0.0001) preeclampsia groups, whereas the frequency of GG genotype was found to be significantly lower (P=0.008, and P=0.0001, respectively). For the rs13430086 SNP, while the frequency of the AA genotype was found to be significantly lower in both mild (P=0.02) and severe (P=0.0001) preeclamptic patients, the frequency of TT genotype was found to be significantly higher in only severe preeclampsia group (P=0.0001).

CONCLUSION

ACVR2A gene polymorphisms may play a role in the development of preeclampsia.

摘要

目的

探讨激活素 A 受体 2A（ACVR2A）基因中选定的单核苷酸基因多态性（SNP）在子痫前期发病机制中的可能作用。

方法

本研究纳入了 94 例子痫前期患者和 166 例健康孕妇。从静脉血中提取基因组 DNA，并在分析前储存在-80°C。在 ABI 7900 HT 实时 PCR 仪器中确定选定的 ACVR2A SNPs（rs10497025、rs1128919、rs13430086）。

结果

对于所有三个 SNP，子痫前期组和对照组在基因型和等位基因频率方面均无统计学差异。在晚期子痫前期组中，rs1128919 SNP 的 GG 基因型频率明显较低（P=0.02）。虽然“A”等位基因的频率较高（P=0.05；OR=1.54），而“G”等位基因的频率较低（P=0.05；OR=0.65），但晚期子痫前期患者的结果未达到统计学意义。对于 rs1128919 SNP，轻度（P=0.004）和重度（P=0.0001）子痫前期组的 AA 基因型频率明显较高，而 GG 基因型频率明显较低（P=0.008 和 P=0.0001）。对于 rs13430086 SNP，尽管轻度（P=0.02）和重度（P=0.0001）子痫前期患者的 AA 基因型频率明显较低，但 TT 基因型频率在重度子痫前期组中明显较高（P=0.0001）。