Ovarian Physiology and GWAS: Biobanks, Biology, and Beyond

Triin Laisk-Podar; Cecilia M Lindgren; Maire Peters; Juha S Tapanainen; Cornelis B Lambalk; Andres Salumets; Reedik Mägi

doi:10.1016/j.tem.2016.04.011

Ovarian Physiology and GWAS: Biobanks, Biology, and Beyond

Trends Endocrinol Metab. 2016 Jul;27(7):516-528. doi: 10.1016/j.tem.2016.04.011. Epub 2016 May 21.

Authors

Triin Laisk-Podar¹, Cecilia M Lindgren², Maire Peters³, Juha S Tapanainen⁴, Cornelis B Lambalk⁵, Andres Salumets⁶, Reedik Mägi⁷

Affiliations

¹ Women's Clinic, University of Tartu, Tartu 51014, Estonia; Competence Centre on Health Technologies, Tartu 50410, Estonia. Electronic address: triin.laisk-podar@ut.ee.
² Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK; Big Data Institute, University of Oxford, Oxford OX3 7BN, UK.
³ Women's Clinic, University of Tartu, Tartu 51014, Estonia; Competence Centre on Health Technologies, Tartu 50410, Estonia.
⁴ 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.
⁵ Department of Obstetrics and Gynecology, VU University Medical Centre, Amsterdam 1007 MB, Netherlands.
⁶ 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.
⁷ Estonian Genome Center, University of Tartu, Tartu 51010, Estonia.

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.

Keywords: menopause; ovarian reserve; polycystic ovary syndrome; premature ovarian insufficiency.

Publication types

Review
Research Support, Non-U.S. Gov't

MeSH terms

Aging / physiology
Animals
Biological Specimen Banks*
Female
Genome-Wide Association Study*
Humans
Menopause / physiology
Ovarian Reserve / physiology
Polycystic Ovary Syndrome / metabolism
Polycystic Ovary Syndrome / physiopathology

Grants and funding

204826/WT_/Wellcome Trust/United Kingdom