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本文引用的文献

1
The implication of single-nucleotide polymorphisms in ovarian hyperstimulation syndrome.单核苷酸多态性在卵巢过度刺激综合征中的意义。
Mol Reprod Dev. 2019 Aug;86(8):964-971. doi: 10.1002/mrd.23171. Epub 2019 May 22.
2
Association of plasminogen activator inhibitor-type 1 (PAI-1) -675 4G/5G polymorphism with unexplained female infertility.纤溶酶原激活物抑制剂-1(PAI-1)-675 4G/5G多态性与不明原因女性不孕症的关联。
Hippokratia. 2017 Oct-Dec;21(4):180-185.
3
MTHFR C677T polymorphism is associated with follicle-stimulating hormone levels and controlled ovarian hyperstimulation response: a retrospective study from the clinical database.亚甲基四氢叶酸还原酶 C677T 多态性与卵泡刺激素水平和控制性卵巢过度刺激反应相关:来自临床数据库的回顾性研究。
Fertil Steril. 2019 May;111(5):982-990.e2. doi: 10.1016/j.fertnstert.2019.01.016. Epub 2019 Mar 25.
4
Role of Plasminogen Activator Inhibitor Type 1 in Pathologies of Female Reproductive Diseases.1型纤溶酶原激活物抑制剂在女性生殖系统疾病病理中的作用
Int J Mol Sci. 2017 Jul 29;18(8):1651. doi: 10.3390/ijms18081651.
5
Impact of blood hypercoagulability on in vitro fertilization outcomes: a prospective longitudinal observational study.血液高凝状态对体外受精结局的影响:一项前瞻性纵向观察研究。
Thromb J. 2017 Mar 28;15:9. doi: 10.1186/s12959-017-0131-7. eCollection 2017.
6
Plasminogen Activator Inhibitor-1 4G/5G Polymorphism is Associated with Reproductive Failure: Metabolic, Hormonal, and Immune Profiles.纤溶酶原激活物抑制剂-1 4G/5G多态性与生殖失败相关:代谢、激素和免疫特征
Am J Reprod Immunol. 2016 Jul;76(1):70-81. doi: 10.1111/aji.12516. Epub 2016 May 4.
7
AMH type II receptor and AMH gene polymorphisms are not associated with ovarian reserve, response, or outcomes in ovarian stimulation.抗苗勒管激素II型受体和抗苗勒管激素基因多态性与卵巢储备、卵巢刺激反应或结局无关。
J Assist Reprod Genet. 2016 Aug;33(8):1085-91. doi: 10.1007/s10815-016-0711-7. Epub 2016 May 3.
8
The ovarian response to standard gonadotropin stimulation is influenced by AMHRII genotypes.抗缪勒氏管激素II型(AMHRII)基因分型会影响卵巢对标准促性腺激素刺激的反应。
Gynecol Endocrinol. 2016 Aug;32(8):641-645. doi: 10.3109/09513590.2016.1149810. Epub 2016 Mar 2.
9
Combined assessment of polymorphisms in the LHCGR and FSHR genes predict chance of pregnancy after in vitro fertilization.LHCGR和FSHR基因多态性的联合评估可预测体外受精后的妊娠几率。
Hum Reprod. 2016 Mar;31(3):672-83. doi: 10.1093/humrep/dev342. Epub 2016 Jan 14.
10
AMH and AMHR2 polymorphisms and AMH serum level can predict assisted reproduction outcomes: a cross-sectional study.抗缪勒管激素(AMH)和抗缪勒管激素受体2(AMHR2)基因多态性及血清AMH水平可预测辅助生殖结局:一项横断面研究
Cell Physiol Biochem. 2015;35(4):1401-12. doi: 10.1159/000373961. Epub 2015 Mar 12.

单核苷酸多态性与卵巢低反应的关系。

Involvement of single nucleotide polymorphisms in ovarian poor response.

机构信息

Urogenital Stem Cell Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Institute of Anatomy, University of Lübeck, Lübeck, Germany.

出版信息

J Assist Reprod Genet. 2021 Sep;38(9):2405-2413. doi: 10.1007/s10815-021-02242-w. Epub 2021 May 29.

DOI:10.1007/s10815-021-02242-w
PMID:34050449
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8490577/
Abstract

PURPOSE

Unpredictability in acquiring an adequate number of high-quality oocytes following ovarian stimulation is one of the major complications in controlled ovarian hyperstimulation (COH). Genetic predispositions of variations could alter the immunological profiles and consequently be implicated in the variability of ovarian response to the stimulation.

DESIGN

Uncovering the influence of variations in AMHR2, LHCGR, MTHFR, PGR, and SERPINE1 genes with ovarian response to gonadotrophin stimulation in COH of infertile women.

METHODS

Blood samples of the women with a good ovarian response (GOR) or with a poor ovarian response (POR) were collected. Genomic DNA was extracted, and gene variations were genotyped by TaqMan SNP Genotyping Assays using primer-probe sets or real-time PCR Kit.

RESULTS

Except for PGR (rs10895068), allele distributions demonstrate that the majority of POR patients carried minor alleles of AMHR2 (rs2002555, G-allele), LHCGR (rs2293275, G-allele), MTHFR (rs1801131, C-allele, and rs1801133, T-allele), and SERPINE1 (rs1799889, 4G allele) genes compared to the GOR. Similarly, genotypes with a minor allele in AMHR2, LHCGR, MTHFR, and SERPINE1 genes had a higher prevalence among POR patients with the polymorphic genotypes. However, further genotype stratification indicated that the minor alleles of these genes are not associated with poor response. Multivariate logistic analysis of clinical-demographic factors and polymorphic genotypes demonstrated a correlation between FSH levels and polymorphic genotypes of SERPINE1 in poor response status.

CONCLUSIONS

Despite a higher prevalence of AMHR2, LHCGR, MTHFR, and SERPINE1 variations in the patients with poor ovarian response, it seems that these variations are not associated with the ovarian response.

摘要

目的

在控制性卵巢过度刺激(COH)中,获得足够数量高质量卵母细胞的不可预测性是主要并发症之一。变异的遗传倾向可能改变免疫谱,并因此影响卵巢对刺激的反应变异性。

设计

揭示 AMHR2、LHCGR、MTHFR、PGR 和 SERPINE1 基因变异对 COH 中不孕妇女促性腺激素刺激卵巢反应的影响。

方法

收集卵巢反应良好(GOR)或卵巢反应不良(POR)患者的血液样本。提取基因组 DNA,使用 TaqMan SNP 基因分型检测试剂盒或实时 PCR 试剂盒通过引物-探针组对基因变异进行基因分型。

结果

除了 PGR(rs10895068)外,等位基因分布表明,大多数 POR 患者携带 AMHR2(rs2002555,G-等位基因)、LHCGR(rs2293275,G-等位基因)、MTHFR(rs1801131,C-等位基因和 rs1801133,T-等位基因)和 SERPINE1(rs1799889,4G 等位基因)基因的次要等位基因。同样,AMHR2、LHCGR、MTHFR 和 SERPINE1 基因的多态性基因型中的次要等位基因在 POR 患者中更为常见。然而,进一步的基因型分层表明这些基因的次要等位基因与不良反应无关。对临床-人口统计学因素和多态性基因型的多变量逻辑分析表明,FSH 水平与 SERPINE1 多态性基因型与不良反应状态之间存在相关性。

结论

尽管在卵巢反应不良的患者中 AMHR2、LHCGR、MTHFR 和 SERPINE1 变异的患病率较高,但这些变异似乎与卵巢反应无关。