• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

相似文献

1
Phenotypes Associated With Polycystic Ovary Syndrome Risk Variants.与多囊卵巢综合征风险变异相关的表型
J Endocr Soc. 2024 Dec 16;9(1):bvae219. doi: 10.1210/jendso/bvae219. eCollection 2024 Nov 26.
2
Ovarian surgery for symptom relief in women with polycystic ovary syndrome.多囊卵巢综合征女性的卵巢手术以缓解症状
Cochrane Database Syst Rev. 2017 Nov 10;11(11):CD009526. doi: 10.1002/14651858.CD009526.pub2.
3
In vitro maturation in subfertile women with polycystic ovarian syndrome undergoing assisted reproduction.多囊卵巢综合征不孕妇女在辅助生殖过程中的体外成熟。
Cochrane Database Syst Rev. 2025 Feb 6;2(2):CD006606. doi: 10.1002/14651858.CD006606.pub5.
4
Bidirectional Mendelian randomization to explore the causal relationships between body mass index and polycystic ovary syndrome.双向孟德尔随机化分析探讨体质指数与多囊卵巢综合征的因果关系。
Hum Reprod. 2019 Jan 1;34(1):127-136. doi: 10.1093/humrep/dey343.
5
Insulin-sensitising drugs (metformin, rosiglitazone, pioglitazone, D-chiro-inositol) for women with polycystic ovary syndrome, oligo amenorrhoea and subfertility.用于患有多囊卵巢综合征、月经过少和生育力低下的女性的胰岛素增敏药物（二甲双胍、罗格列酮、吡格列酮、D-手性肌醇）。
Cochrane Database Syst Rev. 2017 Nov 29;11(11):CD003053. doi: 10.1002/14651858.CD003053.pub6.
6
Aromatase inhibitors (letrozole) for ovulation induction in infertile women with polycystic ovary syndrome.芳香化酶抑制剂（来曲唑）在多囊卵巢综合征不孕妇女中的促排卵作用。
Cochrane Database Syst Rev. 2022 Sep 27;9(9):CD010287. doi: 10.1002/14651858.CD010287.pub4.
7
Insulin resistance in polycystic ovary syndrome: a systematic review and meta-analysis of euglycaemic-hyperinsulinaemic clamp studies.多囊卵巢综合征中的胰岛素抵抗：正常血糖-高胰岛素钳夹研究的系统评价和荟萃分析
Hum Reprod. 2016 Nov;31(11):2619-2631. doi: 10.1093/humrep/dew243. Epub 2016 Oct 7.
8
High prevalence of moderate and severe depressive and anxiety symptoms in polycystic ovary syndrome: a systematic review and meta-analysis.多囊卵巢综合征中中度和重度抑郁及焦虑症状的高患病率：一项系统评价和荟萃分析。
Hum Reprod. 2017 May 1;32(5):1075-1091. doi: 10.1093/humrep/dex044.
9
Clomiphene and other antioestrogens for ovulation induction in polycystic ovarian syndrome.克罗米芬及其他抗雌激素药物用于多囊卵巢综合征的促排卵治疗
Cochrane Database Syst Rev. 2016 Dec 15;12(12):CD002249. doi: 10.1002/14651858.CD002249.pub5.
10
Evaluating serum anti-Müllerian hormone as a diagnostic biomarker for polycystic ovary syndrome in Pakistani women.评估血清抗苗勒管激素作为巴基斯坦女性多囊卵巢综合征诊断生物标志物的作用。
Int J Gynaecol Obstet. 2025 Jun 25. doi: 10.1002/ijgo.70240.

引用本文的文献

1
A Point Mutation in an Otherwise Dispensable Upstream Fshb Enhancer Moderately Impairs Fertility in Female Mice.在一个原本可缺失的上游Fshb增强子中的点突变适度损害雌性小鼠的生育能力。
Endocrinology. 2025 Apr 22;166(6). doi: 10.1210/endocr/bqaf073.

本文引用的文献

1
Analysis of Upstream Regulators, Networks, and Pathways Associated With the Expression Patterns of Polycystic Ovary Syndrome Candidate Genes During Fetal Ovary Development.胎儿卵巢发育过程中与多囊卵巢综合征候选基因表达模式相关的上游调节因子、网络及通路分析
Front Genet. 2022 Feb 7;12:762177. doi: 10.3389/fgene.2021.762177. eCollection 2021.
2
Single nucleus multi-omics regulatory landscape of the murine pituitary.鼠垂体单细胞多组学调控图谱。
Nat Commun. 2021 May 11;12(1):2677. doi: 10.1038/s41467-021-22859-w.
3
Role of Anti-Müllerian Hormone in the Pathogenesis of Polycystic Ovary Syndrome.抗苗勒管激素在多囊卵巢综合征发病机制中的作用
Front Endocrinol (Lausanne). 2020 Sep 9;11:641. doi: 10.3389/fendo.2020.00641. eCollection 2020.
4
Genetic Association Study of Eight Steroid Hormones and Implications for Sexual Dimorphism of Coronary Artery Disease.八项甾体激素的遗传关联研究及其对冠心病性别二态性的影响。
J Clin Endocrinol Metab. 2019 Nov 1;104(11):5008-5023. doi: 10.1210/jc.2019-00757.
5
Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria.大规模全基因组荟萃分析多囊卵巢综合征表明不同诊断标准具有共同的遗传结构。
PLoS Genet. 2018 Dec 19;14(12):e1007813. doi: 10.1371/journal.pgen.1007813. eCollection 2018 Dec.
6
The Fat Mass- and Obesity-Associated (FTO) Gene to Obesity: Lessons from Mouse Models.肥胖相关基因（FTO）与肥胖的关系：来自小鼠模型的启示。
Obesity (Silver Spring). 2018 Nov;26(11):1674-1686. doi: 10.1002/oby.22301. Epub 2018 Oct 12.
7
Molecular regulation of follicle-stimulating hormone synthesis, secretion and action.卵泡刺激素合成、分泌和作用的分子调控。
J Mol Endocrinol. 2018 Apr;60(3):R131-R155. doi: 10.1530/JME-17-0308. Epub 2018 Feb 7.
8
Genetic effects on gene expression across human tissues.基因对人体各组织基因表达的影响。
Nature. 2017 Oct 11;550(7675):204-213. doi: 10.1038/nature24277.
9
Causal mechanisms and balancing selection inferred from genetic associations with polycystic ovary syndrome.从与多囊卵巢综合征的基因关联中推断出的因果机制和平衡选择
Nat Commun. 2015 Sep 29;6:8464. doi: 10.1038/ncomms9464.
10
Genome-wide association study with 1000 genomes imputation identifies signals for nine sex hormone-related phenotypes.基于千人基因组插补的全基因组关联研究确定了九种性激素相关表型的信号。
Eur J Hum Genet. 2016 Feb;24(2):284-90. doi: 10.1038/ejhg.2015.102. Epub 2015 May 27.

与多囊卵巢综合征风险变异相关的表型

Phenotypes Associated With Polycystic Ovary Syndrome Risk Variants.

作者信息

Tidwell Anna, Zhu Jia, Battiola Tess, Welt Corrine K

机构信息

Division of Endocrinology, Metabolism and Diabetes, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.

Division of Endocrinology, Boston Children's Hospital, Boston, MA 02115, USA.

出版信息

J Endocr Soc. 2024 Dec 16;9(1):bvae219. doi: 10.1210/jendso/bvae219. eCollection 2024 Nov 26.

DOI:10.1210/jendso/bvae219
PMID:39687684
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11646653/
Abstract

CONTEXT

Polycystic ovary syndrome (PCOS) affects 10% of women of reproductive age. The genetic architecture of the disease is emerging, but there is little data exploring the effect of genetic risk on clinical presentation.

OBJECTIVE

We hypothesized that genetic risk loci would influence measurable phenotypic traits.

METHODS

This retrospective cohort study, conducted at an academic medical center, included women of European ancestry with PCOS (n = 404), as diagnosed by the National Institutes of Health criteria, and controls with regular menses and no hyperandrogenism (n = 408). We identified association between genetic risk variants and measured phenotypic traits using linear regression.

RESULTS

In a combined analysis of cases and controls, 2 variants in loci containing the genes ( < .001) and ( < .001) were associated with gonadotropin levels. Two variants in loci containing ( = .002) and ( < .001) were associated with androgen levels. Three variants in loci containing ( = .001), ( < .001), and ( < .001) were associated with ovarian morphology. One variant in the locus containing ( = .001) was associated with hip circumference and was influenced by body mass index.

CONCLUSION

These results demonstrate that PCOS genetic risk variants may influence hormone levels and ovarian morphology and increase the risk of obesity. Increased genetic risk for PCOS appears to drive traits that underly the classical clinical presentation of PCOS.

摘要

背景

多囊卵巢综合征（PCOS）影响10%的育龄女性。该疾病的遗传结构正在显现，但探索遗传风险对临床表现影响的数据很少。

目的

我们假设遗传风险位点会影响可测量的表型特征。

方法

这项在学术医学中心进行的回顾性队列研究纳入了符合美国国立卫生研究院标准诊断的欧洲血统PCOS女性（n = 404）以及月经规律且无高雄激素血症的对照女性（n = 408）。我们使用线性回归确定遗传风险变异与测量的表型特征之间的关联。

结果

在病例和对照的联合分析中，包含基因（P <.001）和（P <.001）的位点中的2个变异与促性腺激素水平相关。包含（P =.002）和（P <.001）的位点中的2个变异与雄激素水平相关。包含（P =.001）、（P <.001）和（P <.001）的位点中的3个变异与卵巢形态相关。包含（P =.001）的位点中的1个变异与臀围相关，且受体重指数影响。

结论

这些结果表明，PCOS遗传风险变异可能影响激素水平和卵巢形态，并增加肥胖风险。PCOS遗传风险增加似乎驱动了PCOS经典临床表现背后的特征。