title: Ovarian Physiology and GWAS: Biobanks, Biology, and Beyond.
abstract: 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.
authors.affiliation: Women's Clinic, University of Tartu, Tartu 51014, Estonia; Competence Centre on Health Technologies, Tartu 50410, Estonia. Electronic address: triin.laisk-podar@ut.ee.
authors.forename: Triin
authors.initials: T
authors.lastname: Laisk-Podar
authors.affiliation: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK; Big Data Institute, University of Oxford, Oxford OX3 7BN, UK.
authors.forename: Cecilia M
authors.initials: CM
authors.lastname: Lindgren
authors.affiliation: Women's Clinic, University of Tartu, Tartu 51014, Estonia; Competence Centre on Health Technologies, Tartu 50410, Estonia.
authors.forename: Maire
authors.initials: M
authors.lastname: Peters
authors.affiliation: Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Helsinki 00014, Finland; Department of Obstetrics and Gynecology, University Hospital of Oulu, University of Oulu, Medical Research Center Oulu and PEDEGO Research Unit, Oulu 90029, Finland.
authors.forename: Juha S
authors.initials: JS
authors.lastname: Tapanainen
authors.affiliation: Department of Obstetrics and Gynecology, VU University Medical Centre, Amsterdam 1007 MB, Netherlands.
authors.forename: Cornelis B
authors.initials: CB
authors.lastname: Lambalk
authors.affiliation: Women's Clinic, University of Tartu, Tartu 51014, Estonia; Competence Centre on Health Technologies, Tartu 50410, Estonia; Institute of Bio- and Translational Medicine, University of Tartu, Tartu 50411, Estonia.
authors.forename: Andres
authors.initials: A
authors.lastname: Salumets
authors.affiliation: Estonian Genome Center, University of Tartu, Tartu 51010, Estonia.
authors.forename: Reedik
authors.initials: R
authors.lastname: Mägi
mesh_terms: D000375:Aging / Q000502:physiology; D000818:Animals; D018070:Biological Specimen Banks; D005260:Female; D055106:Genome-Wide Association Study; D006801:Humans; D008593:Menopause / Q000502:physiology; D065851:Ovarian Reserve / Q000502:physiology; D011085:Polycystic Ovary Syndrome / Q000378:metabolism / Q000503:physiopathology
keywords: menopause; ovarian reserve; polycystic ovary syndrome; premature ovarian insufficiency