非整倍体妊娠是一种严重的先天缺陷，其病因不明的情况下导致约50％的自发性流产。到目前为止，只有少数涉及非整倍体妊娠风险因素的流行病学研究，且样本规模较小。TP53、MDM2和miR-34b/c基因与非整倍体肿瘤发生有关，但其多态性在非整倍体妊娠易感性方面的功能需要进一步阐明。为了阐明TP53 rs1042522 G > C、MDM2 rs2279744 309 T > G和miR-34b/c rs4938723 T > C等特定多态性与非整倍体妊娠的关联。在回顾性病例对照研究中，于中国云南省昆明市第一人民医院于2018年1月至2022年4月招募了330名非整倍体妊娠妇女和813名正常妊娠对照。使用快照法对TP53 rs1042522 G > C（Arg72Pro）、MDM2 rs2279744 309 T > G和miR-34b/c rs4938723 T > C这三个功能性多态性进行基因分型。在病例和对照妊娠妇女之间，三种基因型变异的频率分布没有差异，并且与Hardy-Weinberg平衡相似。然而，在年轻亚组（35岁以下），等位基因和隐性模型存在显著差异（p = 0.01）。在高龄亚组（35岁及以上），MDM2 rs2279744 T > G的G等位基因在病例中的频率明显高于对照组（p = 0.045），而miR-34b/c rs4938723 T > C在显性模型下的差异也显著（p = 0.03），但在其他模型和年轻组和老年组中未观察到显著差异（p > 0.05，分别）。这些结果表明个体多态性与非整倍体妊娠无关，但结合年龄，它们可能作为非整倍体妊娠的危险因素。TP53 rs1042522 G > C、MDM2 rs2279744 T > G和miR-34b/c rs4938723 T > C多态性与母亲年龄的组合可能与非整倍体妊娠易感性有关。这些发现可能有助于深入了解非整倍体妊娠的遗传病因。© 2023. BioMed Central Ltd., Springer Nature的一部分。

Aneuploidy pregnancy is a severe major birth defect and causes about 50% spontaneous miscarriages with unknown etiology. To date, only a few epidemiological studies with small sample sizes have investigated the risk factors for aneuploidy pregnancy. TP53, MDM2, and miR-34b/c genes are implicated in tumorigenesis with aneuploidy, yet the function of their polymorphisms in aneuploidy pregnancy susceptibility needs to be clarified.To elucidate the association of TP53 rs1042522 G > C, MDM2 rs2279744 309 T > G, and miR-34b/c rs4938723 T > C specific polymorphisms with aneuploidy pregnancy.In the retrospective case-control study, 330 aneuploidies pregnancy women and 813 normal pregnancy controls were recruited between January 2018 and April 2022 at the First People's Hospital of Yunnan Province, Kunming, China. Three functional polymorphisms, the TP53 rs1042522 G > C (Arg72Pro), MDM2 rs2279744 309 T > G, and miR-34b/c rs4938723 T > C, were genotyped using the snapshot method.The frequency distribution of three genotypic variants was not different between case and control pregnant women and was similar to with Hardy-Weinberg Equilibrium (HWE). However, in the younger subgroup (less than 35 years old), a significant difference was detected in allele and recessive model (p = 0.01). In the advanced age subgroup (more than or equal to 35 years old), G of MDM2 rs2279744 T > G revealed a significantly higher frequency in cases than controls (p = 0.045), and miR-34b/c rs4938723 T > C revealed a significant difference under the dominant model (p = 0.03), but no significant differences were observed in other models and in both younger and older subgroup (p > 0.05, respectively). These results suggest that individual polymorphisms were not associated with aneuploidy pregnancy, combined with age, they may serve as a risk factor for aneuploidy pregnancy.Combination of TP53 rs1042522 G > C, MDM2 rs2279744 T > G, and miR-34b/c rs4938723 T > C polymorphisms with maternal age may be related to aneuploidy pregnancy susceptibility. These findings might elaborate on the genetic etiology of aneuploidy pregnancy.© 2023. BioMed Central Ltd., part of Springer Nature.