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本文引用的文献

1
Is the oocyte quality affected by endometriosis? A review of the literature.子宫内膜异位症会影响卵母细胞质量吗？文献综述。
J Ovarian Res. 2017 Jul 12;10(1):43. doi: 10.1186/s13048-017-0341-4.
2
Serum anti-Müllerian hormone levels decrease after endometriosis surgery.子宫内膜异位症手术后血清抗苗勒管激素水平下降。
J Obstet Gynaecol. 2017 Apr;37(3):342-346. doi: 10.1080/01443615.2016.1239071. Epub 2017 Jan 27.
3
Endometriosis-related infertility: ovarian endometrioma per se is not associated with presentation for infertility.子宫内膜异位症相关性不孕：卵巢子宫内膜异位囊肿本身与因不孕就诊无关。
Hum Reprod. 2016 Aug;31(8):1765-75. doi: 10.1093/humrep/dew093. Epub 2016 Apr 29.
4
Single nucleotide polymorphisms in the anti-Müllerian hormone signalling pathway do not determine high or low response to ovarian stimulation.抗苗勒管激素信号通路中的单核苷酸多态性不能决定卵巢刺激的高反应或低反应。
Reprod Biomed Online. 2010 Nov;21(5):616-23. doi: 10.1016/j.rbmo.2010.05.021. Epub 2010 Jun 16.
5
Identification of novel missense mutations of GDF9 in Chinese women with polycystic ovary syndrome.鉴定中国多囊卵巢综合征女性 GDF9 基因的新型错义突变。
Reprod Biomed Online. 2010 Sep;21(3):344-8. doi: 10.1016/j.rbmo.2010.04.013. Epub 2010 Apr 24.
6
G546A polymorphism of growth differentiation factor-9 contributes to the poor outcome of ovarian stimulation in women with diminished ovarian reserve.生长分化因子 9 的 G546A 多态性与卵巢储备功能降低的妇女卵巢刺激不良结局有关。
Fertil Steril. 2010 Nov;94(6):2490-2. doi: 10.1016/j.fertnstert.2010.03.070. Epub 2010 May 7.
7
Anti muellerian hormone serum levels in women with endometriosis: a case-control study.子宫内膜异位症患者血清抗缪勒管激素水平：病例对照研究。
Gynecol Endocrinol. 2009 Nov;25(11):713-6. doi: 10.3109/09513590903159615.
8
Association study of AMH and AMHRII polymorphisms with unexplained infertility.抗苗勒管激素（AMH）和抗苗勒管激素受体 II（AMHRII）多态性与不明原因不孕的相关性研究。
Fertil Steril. 2010 Sep;94(4):1244-1248. doi: 10.1016/j.fertnstert.2009.05.025. Epub 2009 Jun 21.
9
Roles for transforming growth factor beta superfamily proteins in early folliculogenesis.转化生长因子β超家族蛋白在卵泡早期发生中的作用。
Semin Reprod Med. 2009 Jan;27(1):14-23. doi: 10.1055/s-0028-1108006. Epub 2009 Feb 5.
10
A functional anti-mullerian hormone gene polymorphism is associated with follicle number and androgen levels in polycystic ovary syndrome patients.一种功能性抗苗勒管激素基因多态性与多囊卵巢综合征患者的卵泡数量和雄激素水平相关。
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子宫内膜异位症相关不孕：GDF-9、AMH 和 AMHR2 基因多态性。

Endometriosis-associated infertility: GDF-9, AMH, and AMHR2 genes polymorphisms.

机构信息

UFRGS - Universidade Federal do Rio Grande do Sul, Avenida Paulo Gama, 110, Porto Alegre, RS, CEP 90.040-060, Brazil.

HCPA - Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2.350, Porto Alegre, RS, CEP 90.035-903, Brazil.

出版信息

J Assist Reprod Genet. 2017 Dec;34(12):1667-1672. doi: 10.1007/s10815-017-1026-z. Epub 2017 Aug 22.

DOI:10.1007/s10815-017-1026-z
PMID:28831646
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5714819/
Abstract

PURPOSE

The purpose of this paper is to determine whether there is a correlation between polymorphisms in the growth differentiation factor-9 (GDF-9) gene and anti-Müllerian hormone (AMH) gene and its receptor, AMHR2, and endometriosis-associated infertility.

METHODS

This is a case-control study to evaluate whether there is a correlation between polymorphisms in the GDF-9 gene (SNPs determined by direct sequencing), AMH gene, AMHR2 (both SNPs determined by genotyping using TaqMan Allelic Discrimination), and endometriosis-associated infertility. The study included 74 infertile women with endometriosis and 70 fertile women (tubal ligation) as a control group.

RESULTS

Patient age and the mean FSH levels were similar between the infertile with endometriosis and fertile without endometriosis groups. The frequency of genotypes between the groups for GDF-9 gene polymorphisms did not show statistical significance, nor did the AMHR2 gene polymorphism. However, the AMH gene polymorphism did show statistical significance, relating the polymorphic allele with infertility in endometriosis.

CONCLUSIONS

We demonstrate that an SNP in the AMH gene is associated with infertility in endometriosis, whereas several SNPs in the GDF-9 gene and the - 482A G SNP in the AMHR2 gene were found to be unrelated.

摘要

目的

本文旨在探讨生长分化因子 9（GDF-9）基因和抗缪勒管激素（AMH）基因及其受体 AMHR2 基因的多态性与子宫内膜异位症相关不孕之间是否存在相关性。

方法

这是一项病例对照研究，旨在评估 GDF-9 基因（通过直接测序确定的 SNP）、AMH 基因、AMHR2（均通过 TaqMan 等位基因鉴别基因分型确定的 SNP）的多态性与子宫内膜异位症相关不孕之间是否存在相关性。研究纳入了 74 例患有子宫内膜异位症的不孕女性和 70 例有生育能力的（输卵管结扎）女性作为对照组。

结果

子宫内膜异位症不孕患者和无子宫内膜异位症生育能力正常患者的年龄和平均 FSH 水平相似。两组间 GDF-9 基因多态性的基因型频率无统计学意义，AMHR2 基因多态性也无统计学意义。然而，AMH 基因多态性与子宫内膜异位症不孕相关，与多态性等位基因相关。

结论

我们证明 AMH 基因的 SNP 与子宫内膜异位症相关不孕有关，而 GDF-9 基因的几个 SNP 和 AMHR2 基因的-482A>G SNP 则与不孕无关。