Epigenetic modification of the X chromosome influences susceptibility to polycystic ovary syndrome

The Journal of Clinical Endocrinology and Metabolism
T E HickeyRobert J Norman

Abstract

The cause of polycystic ovary syndrome (PCOS) is unknown, although genetic and environmental influences are clearly implicated. Some genetic studies have suggested the involvement of X-linked genes in PCOS, but the influence of X chromosome inactivation (XCI) on manifestation of this disorder has not previously been examined. The objective of the study was to test the null hypothesis that XCI has no influence on clinical presentation of PCOS. We examined patterns of XCI between sister pairs with the same genotype at a polymorphic locus on the X chromosome in families with PCOS. The study was conducted at a private practice. PCOS was defined as hyperandrogenemia with chronic anovulation. Forty families were studied in which DNA was obtained from at least one parent, the proband, and one sister that could be accurately diagnosed as being affected or unaffected. Relative expression of two X-linked alleles was determined, and the ratio of one to the other represented the pattern of XCI. The statistical odds on a different clinical presentation between sisters was approximately 29 times higher in sister pairs with different patterns of XCI, compared with sister pairs with the same pattern of XCI (odds ratio 28.9; 95% confidence inte...Continue Reading

References

Jun 1, 1975·Obstetrics and Gynecology·J R GivensS A Fish
Oct 1, 1994·Journal of Medical Genetics·E WatkissS Bundey
Jan 29, 1998·The New England Journal of Medicine·J M Puck, H F Willard
Dec 9, 1998·Proceedings of the National Academy of Sciences of the United States of America·R S LegroA Dunaif
Jan 15, 1999·European Journal of Human Genetics : EJHG·A K NaumovaC Sapienza
Jan 28, 1999·Molecular and Cellular Endocrinology·R S Legro
Jul 21, 1999·Proceedings of the National Academy of Sciences of the United States of America·M UrbanekA Dunaif
Aug 3, 2000·Journal of Medical Genetics·R WillemsenB A Oostra
Jan 9, 2004·Fertility and Sterility·UNKNOWN Rotterdam ESHRE/ASRM-Sponsored PCOS Consensus Workshop Group
Nov 25, 2004·Endocrine Reviews·Héctor F Escobar-MorrealeJosé L San Millán
Mar 3, 2005·European Journal of Human Genetics : EJHG·Maria Patrizia BicocchiMaura Acquila
Jul 13, 2005·Proceedings of the National Academy of Sciences of the United States of America·Mario F FragaManel Esteller

❮ Previous
Next ❯

Citations

Aug 30, 2008·Reviews in Endocrine & Metabolic Disorders·Lourdes IbáñezMaria Victoria Marcos
Jan 24, 2007·Nature Clinical Practice. Endocrinology & Metabolism·Margrit Urbanek
Jun 29, 2011·Seminars in Reproductive Medicine·Vasantha Padmanabhan, Almudena Veiga-Lopez
Jul 28, 2010·Human Reproduction·Sarah E HarrisHelen M Picton
May 23, 2012·Human Reproduction Update·UNKNOWN ESHRE Capri Workshop Group
Jul 13, 2007·Current Opinion in Obstetrics & Gynecology·Marie Nam Menke, Jerome F Strauss
Feb 17, 2007·Clinical Obstetrics and Gynecology·Marie Nam Menke, Jerome F Strauss
Feb 28, 2008·The Journal of Clinical Endocrinology and Metabolism·Nissar A ShahMark O Goodarzi
Feb 18, 2011·Journal of Women's Health·Sharon Stein MerkinDavid Siscovick
Oct 16, 2009·Molecular Human Reproduction·Jia-Qiao ZhuQing-Yuan Sun
Feb 15, 2016·Reproductive Biomedicine Online·Livio CasariniGiulia Brigante
Nov 27, 2009·Fertility and Sterility·Ning XuMark O Goodarzi
Dec 8, 2015·Molecular and Cellular Endocrinology·Muraly PuttabyatappaVasantha Padmanabhan
Aug 28, 2007·Lancet·Robert J NormanTheresa E Hickey
Oct 31, 2014·Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology·Krzysztof KatulskiBlazej Meczekalski
Nov 3, 2010·European Journal of Obstetrics, Gynecology, and Reproductive Biology·Ayhan CoskunBulent Kostu
Mar 16, 2016·Scientific Reports·Milana KokosarElisabet Stener-Victorin
Jun 27, 2018·Journal of Molecular Endocrinology·Muraly Puttabyatappa, Vasantha Padmanabhan
Jan 11, 2008·Current Opinion in Endocrinology, Diabetes, and Obesity·Takara Stanley, Madhusmita Misra
Feb 7, 2008·The Journal of Clinical Endocrinology and Metabolism·Saila LappalainenJarmo Jääskeläinen
Apr 15, 2020·Epigenetics : Official Journal of the DNA Methylation Society·Bárbara EchiburúManuel Maliqueo
Mar 17, 2012·Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology·N RussoA R Genazzani
Jul 1, 2010·Expert Review of Endocrinology & Metabolism·T M Barber, S Franks
Dec 16, 2011·The Journal of Clinical Endocrinology and Metabolism·Hui ChenHsiao Chang Chan
Apr 8, 2021·Reproductive Sciences·Matheus Credendio EirasCristiana Libardi Miranda Furtado
Jul 13, 2007·Current Opinion in Obstetrics & Gynecology
Jan 11, 2008·Current Opinion in Endocrinology, Diabetes, and Obesity

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

© 2022 Meta ULC. All rights reserved