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MTHFR polymorphisms C677T and A1298C and associations with IVF outcomes in Brazilian women.亚甲基四氢叶酸还原酶(MTHFR)基因多态性C677T和A1298C与巴西女性体外受精结局的相关性
Reprod Biomed Online. 2014 Jun;28(6):733-8. doi: 10.1016/j.rbmo.2014.02.005. Epub 2014 Mar 4.
2
Thrombophilia and outcomes of assisted reproduction technologies: a systematic review and meta-analysis.血栓形成倾向与辅助生殖技术结局:系统评价和荟萃分析。
Blood. 2011 Sep 8;118(10):2670-8. doi: 10.1182/blood-2011-03-340216. Epub 2011 Jun 24.
3
Reduced plasma fibrinolytic potential in patients with recurrent implantation failure after IVF and embryo transfer.反复体外受精-胚胎移植失败患者的血浆纤维蛋白溶解潜能降低。
Hum Reprod. 2011 Mar;26(3):510-6. doi: 10.1093/humrep/deq369. Epub 2011 Jan 7.
4
Integrating common and rare genetic variation in diverse human populations.整合不同人类群体中的常见和罕见遗传变异。
Nature. 2010 Sep 2;467(7311):52-8. doi: 10.1038/nature09298.
5
Is factor V Leiden mutation a cause of in vitro fertilization failure?凝血因子V莱顿突变是体外受精失败的一个原因吗?
Fertil Steril. 2009 Oct;92(4):1256-1259. doi: 10.1016/j.fertnstert.2009.03.089. Epub 2009 May 21.
6
Repeated in vitro fertilization failure and its relation with thrombophilia.反复体外受精失败及其与血栓形成倾向的关系。
Gynecol Obstet Invest. 2009;67(2):109-12. doi: 10.1159/000165776. Epub 2008 Oct 29.
7
Thrombophilic gene polymorphisms are risk factors for unexplained infertility.
Fertil Steril. 2009 Apr;91(4 Suppl):1516-7. doi: 10.1016/j.fertnstert.2008.07.1782. Epub 2008 Oct 17.
8
Acquired and inherited thrombophilia: implication in recurrent IVF and embryo transfer failure.获得性和遗传性血栓形成倾向:对反复体外受精和胚胎移植失败的影响。
Hum Reprod. 2006 Oct;21(10):2694-8. doi: 10.1093/humrep/del203. Epub 2006 Jul 11.
9
Multiple thrombophilic gene mutations rather than specific gene mutations are risk factors for recurrent miscarriage.多种血栓形成倾向基因突变而非特定基因突变是复发性流产的危险因素。
Am J Reprod Immunol. 2006 May;55(5):360-8. doi: 10.1111/j.1600-0897.2006.00376.x.
10
Diagnostic evaluation of women experiencing repeated in vitro fertilization failure.反复体外受精失败女性的诊断性评估
Eur J Obstet Gynecol Reprod Biol. 2006 Mar 1;125(1):79-84. doi: 10.1016/j.ejogrb.2005.08.001. Epub 2005 Oct 11.

多种血栓形成倾向单核苷酸多态性对新鲜体外受精周期结局无显著影响:对1717例患者的分析

Multiple thrombophilic single nucleotide polymorphisms lack a significant effect on outcomes in fresh IVF cycles: an analysis of 1717 patients.

作者信息

Patounakis George, Bergh Eric, Forman Eric J, Tao Xin, Lonczak Agnieszka, Franasiak Jason M, Treff Nathan, Scott Richard T

机构信息

National Institutes of Health, Bethesda, MD, USA.

Mount Sinai School of Medicine, New York, NY, USA.

出版信息

J Assist Reprod Genet. 2016 Jan;33(1):67-73. doi: 10.1007/s10815-015-0606-z. Epub 2015 Nov 6.

DOI:10.1007/s10815-015-0606-z
PMID:26545911
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4717134/
Abstract

PURPOSE

The aim of the study is to determine if thrombophilic single nucleotide polymorphisms (SNPs) affect outcomes in fresh in vitro fertilization (IVF) cycles in a large general infertility population.

METHODS

A prospective cohort analysis was performed at a university-affiliated private IVF center of female patients undergoing fresh non-donor IVF cycles. The effect of the following thrombophilic SNPs on IVF outcomes were explored: factor V (Leiden and H1299R), prothrombin (G20210A), factor XIII (V34L), β-fibrinogen (-455G → A), plasminogen activator inhibitor-1 (4G/5G), human platelet antigen-1 (a/b9L33P), and methylenetetrahydrofolate reductase (C677T and A1298C). The main outcome measures included positive pregnancy test, clinical pregnancy, embryo implantation, live birth, and pregnancy loss.

RESULTS

Patients (1717) were enrolled in the study, and a total of 4169 embryos were transferred. There were no statistically significant differences in positive pregnancy test, clinical pregnancy, embryo implantation, live birth, or pregnancy loss in the analysis of 1717 patients attempting their first cycle of IVF. Receiver operator characteristics and logistic regression analyses showed that outcomes cannot be predicted by the cumulative number of thrombophilic mutations present in the patient.

CONCLUSIONS

Individual and cumulative thrombophilic SNPs do not affect IVF outcomes. Therefore, initial screening for these SNPs is not indicated.

摘要

目的

本研究旨在确定血栓形成倾向单核苷酸多态性(SNP)是否会影响广大普通不孕人群新鲜体外受精(IVF)周期的结局。

方法

在一家大学附属的私立IVF中心,对接受新鲜非供体IVF周期的女性患者进行前瞻性队列分析。探讨了以下血栓形成倾向SNP对IVF结局的影响:凝血因子V(莱顿突变和H1299R)、凝血酶原(G20210A)、凝血因子XIII(V34L)、β-纤维蛋白原(-455G→A)、纤溶酶原激活物抑制剂-1(4G/5G)、人类血小板抗原-1(a/b9L33P)以及亚甲基四氢叶酸还原酶(C677T和A1298C)。主要结局指标包括妊娠试验阳性、临床妊娠、胚胎着床、活产和妊娠丢失。

结果

1717例患者纳入本研究,共移植4169枚胚胎。在对尝试首次IVF周期的1717例患者的分析中,妊娠试验阳性、临床妊娠、胚胎着床、活产或妊娠丢失方面均无统计学显著差异。受试者工作特征曲线和逻辑回归分析表明,患者体内存在的血栓形成倾向突变累积数量无法预测结局。

结论

个体及累积的血栓形成倾向SNP不影响IVF结局。因此,无需对这些SNP进行初始筛查。