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黄体生成素受体“insLQ”的多态性插入与人类小窦卵泡中 LHR 基因表达和卵泡液激素谱呈负相关。

The polymorphic insertion of the luteinizing hormone receptor "insLQ" show a negative association to LHR gene expression and to the follicular fluid hormonal profile in human small antral follicles.

机构信息

Laboratory of Reproductive Biology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark; Department of Biomedicine, University of Aarhus, Aarhus, Denmark.

Department of Biology and Medical Genetics, 2nd Faculty of Medicine Charles University, University Hospital Motol, Prague, Czech Republic.

出版信息

Mol Cell Endocrinol. 2018 Jan 15;460:57-62. doi: 10.1016/j.mce.2017.07.002. Epub 2017 Jul 3.

Abstract

The luteinizing hormone receptor (LHCGR) has a little studied polymorphic 6 bp insertion (rs4539842/insLQ). This study has evaluated the insLQ polymorphism in relation to potential associations with hormonal characteristics of human small antral follicles (hSAFs). In total, 310 hSAFs were collected from 86 women undergoing fertility preservation. Analysis included hormonal profile of 297 follicular fluid (FF) samples and 148 corresponding granulosa cells samples were evaluated by qPCR for selected genes. Significantly reduced and non-detectable mRNA levels of anti-Müllerian hormone receptor II (AMHR2) and LHCGR, respectively, were observed for insLQ/insLQ compared to -/insLQ and the -/- genotypes. Moreover, LHCGR and CYP19a1 together with oestradiol and inhibin-B were significantly increased in -/insLQ compared to the -/- genotype. The homozygous insLQ genotype showed strong significant associations to GC specific genes LHCGR and CYP19a1, which may translate into significant changes in FF hormone profiles and an altered LH signaling.

摘要

黄体生成素受体 (LHCGR) 具有一个研究较少的多态性 6bp 插入 (rs4539842/insLQ)。本研究评估了 insLQ 多态性与人类小窦卵泡 (hSAFs) 激素特征的潜在关联。总共从 86 名接受生育力保存的女性中收集了 310 个 hSAFs。分析包括 297 个卵泡液 (FF) 样本的激素谱和 148 个相应的颗粒细胞样本,通过 qPCR 评估选定基因的 mRNA 水平。与 -/insLQ 和 -/- 基因型相比,insLQ/insLQ 观察到抗苗勒管激素受体 II (AMHR2) 和 LHCGR 的 mRNA 水平显著降低和无法检测到。此外,与 -/- 基因型相比,-/insLQ 中 LHCGR 和 CYP19a1 以及雌二醇和抑制素-B 显著增加。纯合子 insLQ 基因型与 GC 特异性基因 LHCGR 和 CYP19a1 具有强烈的显著相关性,这可能导致 FF 激素谱发生显著变化,并改变 LH 信号转导。

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