A two sample Mendelian randomization to explore the causal relationships between endometriosis and female infertility

Pu Yifu, Li Yanan, Yanan Li
Endocrine · 2023 · vol. 81(3) , pp. 637–638 · doi:10.1007/s12020-023-03417-4 · PMID:37314641 · W4380577473
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⚙ AI-generated summary by claude@2026-06+body, 2026-06-11 ⓘ

This Mendelian randomization study investigated potential causal links between endometriosis and female infertility.

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The paper uses a two-sample Mendelian randomization approach to test causal relationships between endometriosis and female infertility, leveraging genetic associations as instruments to infer directionality rather than relying on observational correlation. It reports the genetic evidence supporting a causal link between endometriosis and infertility, while acknowledging the need for instrument validity and the constraints inherent to Mendelian randomization (e.g., assumptions about how genetic variants relate to outcomes). A major caveat is that summary-level genetic analyses cannot fully eliminate bias from pleiotropy or other violations of Mendelian randomization assumptions. This paper is centrally about endometriosis — it investigates causal relationships between endometriosis and female infertility using Mendelian randomization.

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References A.W. Horne, S.A. Missmer, Pathophysiology, diagnosis, and management of endometriosis. BMJ 379, e070750 (2022) P. Vercellini, A. Abbiati, P. Vigano, E.D. Somigliana, R. Daguati, F. Meroni et al. Asymmetry in distribution of diaphragmatic endometriotic lesions: evidence in favour of the menstrual reflux theory. Hum. Reprod. 22(9), 2359–2367 (2007) D.L. Healy, A.O. Trounson, A.N. Andersen, Female infertility: causes and treatment. Lancet 343(8912), 1539–1544 (1994) L. Vassilopoulou, M. Matalliotakis, M.I. Zervou, C. Matalliotaki, D.A. Spandidos, I. Matalliotakis et al. Endometriosis and in vitro fertilisation. Exp. Ther. Med. 16(2), 1043–1051 (2018) P. Vercellini, E. Somigliana, D. Consonni, M.P. Frattaruolo, O. De Giorgi, L. Fedele, Surgical versus medical treatment for endometriosis-associated severe deep dyspareunia: I. Effect on pain during intercourse and patient satisfaction. Hum. Reprod. 27(12), 3450–3459 (2012) N. Pluchino, J.M. Wenger, P. Petignat, R. Tal, M. Bolmont, H.S. Taylor et al. Sexual function in endometriosis patients and their partners: effect of the disease and consequences of treatment. Hum. Reprod. Update 22(6), 762–774 (2016) A. Takeuchi, K. Koga, E. Satake, T. Makabe, A. Taguchi, M. Miyashita et al. Endometriosis Triggers Excessive Activation of Primordial Follicles via PI3K-PTEN-Akt-Foxo3 Pathway. J. Clin. Endocrinol. Metab. 104(11), 5547–5554 (2019) M.G. Da Broi, H. Malvezzi, C.C. Paz, R.A. Ferriani, P.A. Navarro, Follicular fluid from infertile women with mild endometriosis may compromise the meiotic spindles of bovine metaphase II oocytes. Hum. Reprod. 29(2), 315–323 (2014) M. Hirsch, M.R. Begum, E. Paniz, C. Barker, C.J. Davis, J. Duffy, Diagnosis and management of endometriosis: a systematic review of international and national guidelines. BJOG 125(5), 556–564 (2018) Author information Authors and Affiliations Corresponding author Ethics declarations Conflict of interest The authors declare no competing interests. Additional information Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Rights and permissions About this article Cite this article Yifu, P., Yanan, L. A two sample Mendelian randomization to explore the causal relationships between endometriosis and female infertility. Endocrine 81, 637–638 (2023). https://doi.org/10.1007/s12020-023-03417-4 Received: Accepted: Published: Version of record: Issue date: DOI: https://doi.org/10.1007/s12020-023-03417-4

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Condition tags

endometriosisinfertility

MeSH descriptors

Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis

Citation neighborhood

Papers in the corpus that this work cites (lower rings, blue) and that cite this one (upper rings, green). Dot size scales with the paper's in-corpus citation count — bigger dot = more influential within the endo/adeno field. Click a dot to open that paper. [ expand to 2 hops ] — adds papers reached through this work's immediate citers/citees. Heavier; up to 60 extra dots.

References (10)

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