Literature DB >> 33518187

Genetics of Polycystic Ovary Syndrome: What is New?

Corrine K Welt1.   

Abstract

Polycystic ovary syndrome (PCOS) is a complex genetic disorder with many genetic loci contributing small risk. Large genome-wide association studies identified 21 genetic risk loci for PCOS in European and Han Chinese women. The genetic architecture is similar across PCOS diagnostic categories. The next wave of analysis will incorporate large genotyped datasets linked to medical records, increasing numbers and ethnic subsets. The resulting genetic risk loci can then be used to create robust genetic risk scores enhanced with clinical information, environment and lifestyle data for a precision medicine approach to PCOS diagnosis and treatment.
Copyright © 2020 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Genetics; Mendelian randomization; Precision medicine

Mesh：

Year:  2021        PMID： 33518187      PMCID： PMC8045670          DOI： 10.1016/j.ecl.2020.10.006

Source DB:  PubMed          Journal:  Endocrinol Metab Clin North Am        ISSN： 0889-8529            Impact factor:   4.741


  52 in total

1.  Gene variants associated with age at menopause are also associated with polycystic ovary syndrome, gonadotrophins and ovarian volume.

Authors:  R Saxena; A C Bjonnes; N A Georgopoulos; V Koika; D Panidis; C K Welt
Journal:  Hum Reprod       Date:  2015-05-20       Impact factor: 6.918

2.  Replication of association of DENND1A and THADA variants with polycystic ovary syndrome in European cohorts.

Authors:  Mark O Goodarzi; Michelle R Jones; Xiaohui Li; Angela K Chua; Obed A Garcia; Yii-Der I Chen; Ronald M Krauss; Jerome I Rotter; Wendy Ankener; Richard S Legro; Ricardo Azziz; Jerome F Strauss; Andrea Dunaif; Margrit Urbanek
Journal:  J Med Genet       Date:  2011-12-17       Impact factor: 6.318

3.  Improvement in endocrine and ovarian function during dietary treatment of obese women with polycystic ovary syndrome.

Authors:  D S Kiddy; D Hamilton-Fairley; A Bush; F Short; V Anyaoku; M J Reed; S Franks
Journal:  Clin Endocrinol (Oxf)       Date:  1992-01       Impact factor: 3.478

4.  A Polygenic and Phenotypic Risk Prediction for Polycystic Ovary Syndrome Evaluated by Phenome-Wide Association Studies.

Authors:  Yoonjung Yoonie Joo; Ky'Era Actkins; Jennifer A Pacheco; Anna O Basile; Robert Carroll; David R Crosslin; Felix Day; Joshua C Denny; Digna R Velez Edwards; Hakon Hakonarson; John B Harley; Scott J Hebbring; Kevin Ho; Gail P Jarvik; Michelle Jones; Tugce Karaderi; Frank D Mentch; Cindy Meun; Bahram Namjou; Sarah Pendergrass; Marylyn D Ritchie; Ian B Stanaway; Margrit Urbanek; Theresa L Walunas; Maureen Smith; Rex L Chisholm; Abel N Kho; Lea Davis; M Geoffrey Hayes
Journal:  J Clin Endocrinol Metab       Date:  2020-06-01       Impact factor: 5.958

5.  Evidence for a single gene effect causing polycystic ovaries and male pattern baldness.

Authors:  A H Carey; K L Chan; F Short; D White; R Williamson; S Franks
Journal:  Clin Endocrinol (Oxf)       Date:  1993-06       Impact factor: 3.478

6.  Pituitary gonadotrophic hormone synthesis, secretion, subunit gene expression and cell structure in normal and follicle-stimulating hormone β knockout, follicle-stimulating hormone receptor knockout, luteinising hormone receptor knockout, hypogonadal and ovariectomised female mice.

Authors:  M H Abel; A Widen; X Wang; I Huhtaniemi; P Pakarinen; T R Kumar; H C Christian
Journal:  J Neuroendocrinol       Date:  2014-11       Impact factor: 3.627

7.  Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria.

Authors:  Felix Day; Tugce Karaderi; Michelle R Jones; Cindy Meun; Chunyan He; Alex Drong; Peter Kraft; Nan Lin; Hongyan Huang; Linda Broer; Reedik Magi; Richa Saxena; Triin Laisk; Margrit Urbanek; M Geoffrey Hayes; Gudmar Thorleifsson; Juan Fernandez-Tajes; Anubha Mahajan; Benjamin H Mullin; Bronwyn G A Stuckey; Timothy D Spector; Scott G Wilson; Mark O Goodarzi; Lea Davis; Barbara Obermayer-Pietsch; André G Uitterlinden; Verneri Anttila; Benjamin M Neale; Marjo-Riitta Jarvelin; Bart Fauser; Irina Kowalska; Jenny A Visser; Marianne Andersen; Ken Ong; Elisabet Stener-Victorin; David Ehrmann; Richard S Legro; Andres Salumets; Mark I McCarthy; Laure Morin-Papunen; Unnur Thorsteinsdottir; Kari Stefansson; Unnur Styrkarsdottir; John R B Perry; Andrea Dunaif; Joop Laven; Steve Franks; Cecilia M Lindgren; Corrine K Welt
Journal:  PLoS Genet       Date:  2018-12-19       Impact factor: 6.020

8.  Using human genetics to understand the disease impacts of testosterone in men and women.

Authors:  Katherine S Ruth; Felix R Day; Jessica Tyrrell; Deborah J Thompson; Anna Murray; Ken K Ong; Timothy M Frayling; John R B Perry; Andrew R Wood; Anubha Mahajan; Robin N Beaumont; Laura Wittemans; Susan Martin; Alexander S Busch; A Mesut Erzurumluoglu; Benjamin Hollis; Tracy A O'Mara; Mark I McCarthy; Claudia Langenberg; Douglas F Easton; Nicholas J Wareham; Stephen Burgess
Journal:  Nat Med       Date:  2020-02-10       Impact factor: 53.440

9.  Causal mechanisms and balancing selection inferred from genetic associations with polycystic ovary syndrome.

Authors:  Felix R Day; David A Hinds; Joyce Y Tung; Lisette Stolk; Unnur Styrkarsdottir; Richa Saxena; Andrew Bjonnes; Linda Broer; David B Dunger; Bjarni V Halldorsson; Debbie A Lawlor; Guillaume Laval; Iain Mathieson; Wendy L McCardle; Yvonne Louwers; Cindy Meun; Susan Ring; Robert A Scott; Patrick Sulem; André G Uitterlinden; Nicholas J Wareham; Unnur Thorsteinsdottir; Corrine Welt; Kari Stefansson; Joop S E Laven; Ken K Ong; John R B Perry
Journal:  Nat Commun       Date:  2015-09-29       Impact factor: 14.919

10.  Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls.

Authors:  Josep M Mercader; Christian Fuchsberger; Miriam S Udler; Anubha Mahajan; Jason Flannick; Jennifer Wessel; Tanya M Teslovich; Lizz Caulkins; Ryan Koesterer; Francisco Barajas-Olmos; Thomas W Blackwell; Eric Boerwinkle; Jennifer A Brody; Federico Centeno-Cruz; Ling Chen; Siying Chen; Cecilia Contreras-Cubas; Emilio Córdova; Adolfo Correa; Maria Cortes; Ralph A DeFronzo; Lawrence Dolan; Kimberly L Drews; Amanda Elliott; James S Floyd; Stacey Gabriel; Maria Eugenia Garay-Sevilla; Humberto García-Ortiz; Myron Gross; Sohee Han; Nancy L Heard-Costa; Anne U Jackson; Marit E Jørgensen; Hyun Min Kang; Megan Kelsey; Bong-Jo Kim; Heikki A Koistinen; Johanna Kuusisto; Joseph B Leader; Allan Linneberg; Ching-Ti Liu; Jianjun Liu; Valeriya Lyssenko; Alisa K Manning; Anthony Marcketta; Juan Manuel Malacara-Hernandez; Angélica Martínez-Hernández; Karen Matsuo; Elizabeth Mayer-Davis; Elvia Mendoza-Caamal; Karen L Mohlke; Alanna C Morrison; Anne Ndungu; Maggie C Y Ng; Colm O'Dushlaine; Anthony J Payne; Catherine Pihoker; Wendy S Post; Michael Preuss; Bruce M Psaty; Ramachandran S Vasan; N William Rayner; Alexander P Reiner; Cristina Revilla-Monsalve; Neil R Robertson; Nicola Santoro; Claudia Schurmann; Wing Yee So; Xavier Soberón; Heather M Stringham; Tim M Strom; Claudia H T Tam; Farook Thameem; Brian Tomlinson; Jason M Torres; Russell P Tracy; Rob M van Dam; Marijana Vujkovic; Shuai Wang; Ryan P Welch; Daniel R Witte; Tien-Yin Wong; Gil Atzmon; Nir Barzilai; John Blangero; Lori L Bonnycastle; Donald W Bowden; John C Chambers; Edmund Chan; Ching-Yu Cheng; Yoon Shin Cho; Francis S Collins; Paul S de Vries; Ravindranath Duggirala; Benjamin Glaser; Clicerio Gonzalez; Ma Elena Gonzalez; Leif Groop; Jaspal Singh Kooner; Soo Heon Kwak; Markku Laakso; Donna M Lehman; Peter Nilsson; Timothy D Spector; E Shyong Tai; Tiinamaija Tuomi; Jaakko Tuomilehto; James G Wilson; Carlos A Aguilar-Salinas; Erwin Bottinger; Brian Burke; David J Carey; Juliana C N Chan; Josée Dupuis; Philippe Frossard; Susan R Heckbert; Mi Yeong Hwang; Young Jin Kim; H Lester Kirchner; Jong-Young Lee; Juyoung Lee; Ruth J F Loos; Ronald C W Ma; Andrew D Morris; Christopher J O'Donnell; Colin N A Palmer; James Pankow; Kyong Soo Park; Asif Rasheed; Danish Saleheen; Xueling Sim; Kerrin S Small; Yik Ying Teo; Christopher Haiman; Craig L Hanis; Brian E Henderson; Lorena Orozco; Teresa Tusié-Luna; Frederick E Dewey; Aris Baras; Christian Gieger; Thomas Meitinger; Konstantin Strauch; Leslie Lange; Niels Grarup; Torben Hansen; Oluf Pedersen; Philip Zeitler; Dana Dabelea; Goncalo Abecasis; Graeme I Bell; Nancy J Cox; Mark Seielstad; Rob Sladek; James B Meigs; Steve S Rich; Jerome I Rotter; David Altshuler; Noël P Burtt; Laura J Scott; Andrew P Morris; Jose C Florez; Mark I McCarthy; Michael Boehnke
Journal:  Nature       Date:  2019-05-22       Impact factor: 49.962
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  2 in total

Review 1.  Polycystic Ovary Syndrome: An Evolutionary Adaptation to Lifestyle and the Environment.

Authors:  Jim Parker; Claire O'Brien; Jason Hawrelak; Felice L Gersh
Journal:  Int J Environ Res Public Health       Date:  2022-01-25       Impact factor: 3.390

2.  The Use of Ceramides to Predict Metabolic Response to Metformin in Women With PCOS.

Authors:  Anu Sharma; Benjamin Krick; Ying Li; Scott A Summers; Mary C Playdon; Corrine Welt
Journal:  J Endocr Soc       Date:  2022-09-02
  2 in total

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