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This version published online on October 11, 2005
Journal of Clinical Endocrinology & Metabolism, doi:10.1210/jc.2005-1494
A more recent version of this article appeared on June 1, 2006
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*OMIM
Medline Plus Health Information
*Twins, Triplets, Multiple Births

Submitted on July 6, 2005
Accepted on October 3, 2005

Heritability of polycystic ovary syndrome (PCOS) in a Dutch twin-family study

J. M. Vink*, S. Sadrzadeh, C. B. Lambalk, and Dorret I. Boomsma

Department of Biological Psychology, Vrije Universiteit Amsterdam, The Netherlands, Division of Reproductive Medicine, Department of Obstetrics & Gynaecology, VU University medical centre, Amsterdam, The Netherlands

* To whom correspondence should be addressed. E-mail: jm.vink{at}psy.vu.nl.

Background: Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders among women of reproductive age. There is evidence for a genetic component in PCOS based on familial clustering of cases.

Objective: In the present study the heritability of PCOS was estimated.

Design/participants: Data from 1332 monozygotic twins (genetically identical) and 1873 dizygotic twins/singleton sisters of twins (who share on average 50% of their segregating genes) registered with The Netherlands Twin Register were used. PCOS was defined as less than 9 menstrual cycles and acne or hirsutism in agreement with the 2003 Rotterdam consensus.

Results: Results point to a strong contribution of familial factors to PCOS. The resemblance in MZ twin sisters (tetrachoric correlation = 0.71) for PCOS was about twice as large as in DZ twin and other sisters (tetrachoric correlation = 0.38). Univariate analyses point to strong contributions of genetic factors to the variance in PCOS. Next, a trivariate genetic analysis of oligomenorrhea, acne and hirsutism was carried out. This analysis confirmed that the familial component in PCOS is due to genetic factors.

Conclusions: This study demonstrated a large influence of genetic factors to the pathogenesis of PCOS, justifying the search for susceptibility genes.


Key words: genetics • PCOS • female twins • sisters • oligomenorrhea • hirsutism • acne




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