Department of Genetics, Ahar Branch, Islamic Azad University, Ahar 54511, Iran.
Biomed Res Int. 2013;2013:256470. doi: 10.1155/2013/256470. Epub 2013 Oct 20.
Estrogen plays a crucial role in fetal and placental development through estrogen receptors. Association of estrogen receptor alpha gene (ESR1) polymorphisms with spontaneous abortion has been shown in some studies. Our main goal was to study the potential association of spontaneous abortion with the ESR1 gene variations (PvuII and XbaI) in fetal tissue. Totally, 161 samples were recruited including 80 samples of formalin-fixed paraffin-embedded fetal tissue from spontaneous abortion and 81 samples of normal term placental tissue. The restriction fragment length polymorphism (RFLP) method was performed for genotyping the rs2234693 (A/G XbaI) and rs9340799 (T/C PvuII) single nucleotide polymorphisms located in intron 1 of ESR1. The results have been confirmed by DNA sequencing analysis. The different genotypes distribution was detected in two study groups. Haplotype analysis indicated that ppxx is protective genotype against spontaneous abortion (P = 0.01). In conclusion, the potential role of ESR1 genetic variation in spontaneous abortion might be valuable in high-risk subjects, and that needs to be confirmed with future studies.
雌激素通过雌激素受体在胎儿和胎盘发育中发挥关键作用。一些研究表明，雌激素受体 α 基因（ESR1）多态性与自然流产有关。我们的主要目标是研究 ESR1 基因变异（PvuII 和 XbaI）与胎儿组织中自然流产的潜在关联。总共招募了 161 个样本，包括 80 个来自自然流产的福尔马林固定石蜡包埋胎儿组织样本和 81 个正常足月胎盘组织样本。采用限制性片段长度多态性（RFLP）方法对 ESR1 内含子 1 中 rs2234693（A/G XbaI）和 rs9340799（T/C PvuII）单核苷酸多态性进行基因分型。结果通过 DNA 测序分析进行了验证。在两个研究组中检测到不同的基因型分布。单体型分析表明，ppx 是自然流产的保护基因型（P = 0.01）。总之，ESR1 遗传变异在自然流产中的潜在作用在高危人群中可能具有重要价值，这需要进一步研究来证实。
