No genetic association with recurrent pregnancy loss (RPL) caused by embryonic aneuploidy has been found. Recent studies have indicated that the common genetic variant rs2305957, surrounding the PLK4 gene, contributes to mitotic-origin aneuploidy risk during human early embryo development. The decrease in meiosis-specific cohesin causes predivision of sister chromatids in the centromere and chromosome segregation errors. STAG3 is a component of cohesin and is a meiosis-specific gene. Our case-control study included 184 patients with RPL whose previous products of conception (POC) exhibited aneuploidy and 190 fertile control women without a history of miscarriage. We performed a genetic association study to examine the genotype distribution at PLK4 (rs2305957) and STAG3 in patients with RPL caused by aneuploidy compared with controls. Regarding STAG3, SNPs with a minor allele frequency (MAF) threshold > 0.05 that were predicted to be binding sites of transcription factors and that showed significant associations in expression quantitative trait locus (e-QTL) analysis were selected. No significant differences in the MAF or distribution in any model of PLK4 (rs2305957) and 5 selected tag SNPs in STAG3 were found between the patients and controls. A further genome-wide association study is needed since a combination of genetic risk alleles might be useful in predicting future age-dependent RPL caused by aneuploidy.

尚未发现与胚胎非整倍性引起的反复妊娠流产（RPL）的遗传关联。最近的研究表明，围绕PLK4基因的常见遗传变异rs2305957在人类早期胚胎发育过程中促成有丝分裂起源的非整倍性风险。减数分裂特异性黏着蛋白的减少导致着丝粒中姐妹染色单体的预分和染色体分离错误。STAG3是黏着蛋白的组成部分，是减数分裂特异性基因。我们的病例对照研究包括184例RPL患者，其先前的受孕产物（POC）表现出非整倍性，以及190例无生育史的可育对照妇女。我们进行了遗传关联研究，以检查PLK4的基因型分布与非对照组相比，由非整倍性引起的RPL患者（rs2305957）和STAG3。关于STAG3，选择了具有较低等位基因频率（MAF）阈值> 0.05的SNP，这些SNP被认为是转录因子的结合位点，并且在表达数量性状基因座（e-QTL）分析中显示出显着的关联。在患者和对照之间未发现任何模型的PLK4（rs2305957）和STAG3中的5个选定标签SNP的MAF或分布有显着差异。由于遗传风险等位基因的组合可能有助于预测由非整倍性引起的未来年龄依赖性RPL，因此需要进行进一步的全基因组关联研究。