Population Genetics of Polycystic Ovary Syndrome
Polycystic ovary syndrome (PCOS) is a common endocrine disorder of women, characterized by
elevated levels of male hormones, absent menstruation, infrequent or very light
menstruation, and reduced ability to reproduce. Genetic factors likely contribute to the
etiology of PCOS, but no genes have been identified with certainty. The findings from these
studies will enhance our understanding of the genetics of PCOS, a major contributor to
female infertility. Better knowledge of "PCOS genes" will also help in predicting responses
to treatments for infertility, insulin resistance, and other aspects of the disease.
Women with PCOS may be eligible to participate in this study if they are between the ages of
18 and 50 and have two living biological parents who are also willing to participate. Study
participation involves telephone screening and consent and home collection by subjects
(probands) and their parents of sputum (saliva) in a provided container. Specimen
containers and signed consent forms will be returned to the study site by mail.
The major goal of this research project, the identification of genes contributing to PCOS,
will provide basic understanding of the genotype-phenotype relationships that contribute to
features of PCOS. Knowledge of "PCOS genes" would assist physicians in predicting and
assessing responses to interventions that promote fertility, improve insulin sensitivity,
and treat other aspects of the disease.
Observational Model: Case-Only, Time Perspective: Prospective
PCOS gene identification.
Anuja Dokras-Jagasia, MD, PhD
University of Pennsylvania
United States: Institutional Review Board
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