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黎巴嫩人群中心血管疾病基因突变与复发性流产之间的关联。

The association between cardiovascular disease gene mutations and recurrent pregnancy loss in the Lebanese population.

作者信息

El Achi Hanadi, Awwad Johnny, Abou Daya Sarah, Halabi Sahar, Damianos Sandra, Mahfouz Rami

机构信息

Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Cairo Street, Beirut, Lebanon.

Department of Obstetrics and Gynecology, American University of Beirut Medical Center, Beirut, Lebanon.

出版信息

Mol Biol Rep. 2018 Oct;45(5):911-916. doi: 10.1007/s11033-018-4237-1. Epub 2018 Jul 4.

DOI:10.1007/s11033-018-4237-1
PMID:29974397
Abstract

Recurrent pregnancy loss (RPL) is a problem affecting up to 5% of women of childbearing age due to many factors. Studies have shown that RPL and cardiovascular disease (CVD) may have shared risk factors. We compared the prevalence of 12 cardiovascular disease related gene mutations in patients with a history of RPL to normal controls in a major tertiary care center in Lebanon. The CVD StripAssay (ViennaLab, Austria) was used to analyze the CVD genes on 70 women with RPL history as part of the initial routine workup for recurrent miscarriage at the American University of Beirut Medical Center. The obtained results were compared with data of controls from the Lebanese population using Fisher's exact test and Chi square analysis. Two genes of the CVD panel demonstrated a strong relationship with RPL, including, MTHFR (C677T homozygosity, A1298C homozygosity, and compound heterozygosity for C677T and A1298C) and Factor II (heterozygosity for G20210A). Moreover, a protective role of positive APO-E3 isoform was observed. This study is the first in the Lebanese population in associating RPL with a large panel of CVD related genes.

摘要

复发性流产(RPL)是一个影响高达5%育龄妇女的问题,其原因众多。研究表明,复发性流产和心血管疾病(CVD)可能存在共同的危险因素。我们在黎巴嫩一家大型三级医疗中心,比较了有复发性流产病史的患者与正常对照人群中12种心血管疾病相关基因突变的发生率。采用CVD StripAssay(奥地利维也纳实验室)对70名有复发性流产病史的女性的心血管疾病相关基因进行分析,这是贝鲁特美国大学医学中心复发性流产初始常规检查的一部分。使用Fisher精确检验和卡方分析,将所得结果与黎巴嫩人群对照组的数据进行比较。心血管疾病检测组中的两个基因与复发性流产有密切关系,包括亚甲基四氢叶酸还原酶(MTHFR,C677T纯合子、A1298C纯合子以及C677T和A1298C的复合杂合子)和凝血因子II(G20210A杂合子)。此外,还观察到载脂蛋白E3阳性异构体的保护作用。这项研究是黎巴嫩人群中首次将复发性流产与一大组心血管疾病相关基因联系起来的研究。

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