Amin-Beidokhti Mona, Mirfakhraie Reza, Zare-Karizi Shohreh, Karamoddin Fatemeh
Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Reprod Biomed Online. 2017 Mar;34(3):325-330. doi: 10.1016/j.rbmo.2016.12.004. Epub 2016 Dec 13.
The medical evaluation of recurrent pregnancy loss (RPL), the occurrence of two or more consecutive pregnancy losses prior to 20th week of gestation, is mainly focused on maternal factors. However, paternally expressed genes may also play a role in implantation and placenta quality. This study aimed to investigate the possible association between parental miR-196a2C>T and miR-499aT>C polymorphisms and RPL in a case-control study including 200 RPL couples and 400 healthy men and women. Genotyping was performed using Tetra-ARMS-PCR and PCR-RFLP for miR-196a2C>T and miR-499aT>C polymorphisms, respectively. In men, the association was observed between miR-499a and RPL under dominant (P = 0.006; odds ratio [OR] = 2.36; 95% confidence interval [CI], 1.28-4.37), recessive (P < 0.0001; OR = 2.89; 95% CI, 1.92-4.36) and additive (P < 0.001; OR = 2.77; 95% CI, 1.52-5.10) models. In women, the association was found between miR-196a2 and RPL under recessive (P = 0.02; OR = 2.19; 95% CI, 1.16-4.14) and additive (P = 0.03; OR = 1.53; 95% CI, 1.04-2.27) models. Hence, evidence was provided for association of genetic variation in parental microRNA polymorphisms with RPL. Further studies are required to validate the significance of the studied genetic variations in diverse ethnic populations.
复发性流产（RPL）是指在妊娠20周前发生两次或更多次连续流产，对其进行医学评估主要关注母体因素。然而，父系表达基因可能在着床和胎盘质量方面也发挥作用。本研究旨在通过一项病例对照研究，调查父母miR-196a2C>T和miR-499aT>C多态性与复发性流产之间的可能关联，该研究纳入了200对复发性流产夫妇以及400名健康男性和女性。分别使用四引物扩增受阻突变系统PCR（Tetra-ARMS-PCR）和聚合酶链反应-限制性片段长度多态性分析（PCR-RFLP）对miR-196a2C>T和miR-499aT>C多态性进行基因分型。在男性中，在显性（P = 0.006；优势比[OR]=2.36；95%置信区间[CI]，1.28 - 4.37）、隐性（P < 0.0001；OR = 2.89；95% CI，1.92 - 4.36）和共显性（P < 0.001；OR = 2.77；95% CI，1.52 - 5.10）模型下观察到miR-499a与复发性流产之间存在关联。在女性中，在隐性（P = 0.02；OR = 2.19；95% CI，1.16 - 4.14）和共显性（P = 0.03；OR = 1.53；95% CI，1.04 - 2.27）模型下发现miR-196a2与复发性流产之间存在关联。因此，为父母微小RNA多态性的基因变异与复发性流产之间的关联提供了证据。需要进一步研究以验证所研究的基因变异在不同种族人群中的意义。
