Ovarian Physiology and GWAS: Biobanks, Biology, and Beyond

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• 作者：Triin Laisk-Podar¹ ; ² ; ^{triin.laisk-podar@ut.ee" class="auth_mail" title="E-mail the corresponding author} ; Cecilia M. Lindgren³ ; ⁴ ; Maire Peters¹ ; ² ; Juha S. Tapanainen⁵ ; ⁶ ; Cornelis B. Lambalk⁷ ; Andres Salumets¹ ; ² ; ⁸ ; Reedik Mä ; gi⁹
• 关键词：ovarian reserve ; menopause ; polycystic ovary syndrome ; premature ovarian insufficiency
• 刊名：Trends in Endocrinology & Metabolism
• 出版年：2016
• 出版时间：July 2016
• 年：2016
• 卷：27
• 期：7
• 页码：516-528
• 全文大小：2561 K

文摘

Ovarian function is central to female fertility, and several genome-wide association studies (GWAS) have been carried out to elucidate the genetic background of traits and disorders that reflect and affect ovarian physiology. While GWAS have been successful in reporting numerous genetic associations and highlighting involved pathways relevant to reproductive aging, for ovarian disorders, such as premature ovarian insufficiency and polycystic ovary syndrome, research has lagged behind due to insufficient study sample size. Novel approaches to study design and analysis methods that help to fit GWAS findings into biological context will improve our knowledge about genetics governing ovarian function in fertility and disease, and provide input for clinical tools and better patient management.