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medRxiv. 2020 Nov 03; doi: 10.1101/2020.10.29.20221390.

Genome-wide association study meta-analysis identifies three novel loci for circulating anti-Müllerian hormone levels in women.

medRxiv : the preprint server for health sciences

Renée Mg Verdiesen, Yvonne T van der Schouw, Carla H van Gils, Wm Monique Verschuren, Frank Jm Broekmans, Maria C Borges, Ana Lg Soares, Deborah A Lawlor, A Heather Eliassen, Peter Kraft, Dale P Sandler, Sioban D Harlow, Jennifer A Smith, Nanette Santoro, Minouk J Schoemaker, Anthony J Swerdlow, Anna Murray, Katherine S Ruth, N Charlotte Onland-Moret

PMID: 33173903 PMCID: PMC7654897 DOI: 10.1101/2020.10.29.20221390

Abstract

Anti-Müllerian hormone (AMH) is expressed by antral stage ovarian follicles in women. Consequently, circulating AMH levels are detectable until menopause. Variation in age-specific AMH levels has been associated with breast cancer and polycystic ovary syndrome (PCOS), amongst other diseases. Identification of genetic variants underlying variation in AMH levels could provide clues about the physiological mechanisms that explain these AMH-disease associations. To date, only one variant in

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