Genetics of Polycystic Ovary Syndrome
Study Details
Study Description
Brief Summary
The purpose of this study is to look at genes (DNA) and how they affect health and disease. Genes are the instruction manual for the body. The genes you get from your parents decide what you look like and how your body behaves. They can also tell us a person's risk for certain diseases and how they will respond to treatment. We will collect a saliva sample for genetic research.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
|
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Detailed Description
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.
Study Design
Arms and Interventions
| Arm | Intervention/Treatment |
|---|---|
| 1 Women with diagnosis of PCOS |
Outcome Measures
Primary Outcome Measures
- PCOS gene identification. [December 2010]
Eligibility Criteria
Criteria
Inclusion Criteria:
-
Diagnosis of PCOS
-
Both biological parents alive
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Yes to both answers and parents willing to participate
Exclusion Criteria:
- Healthy women
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | University of Pennsylvania | Philadelphia | Pennsylvania | United States | 19104 |
Sponsors and Collaborators
- University of Pennsylvania
- University of Iowa
Investigators
- Principal Investigator: Anuja Dokras-Jagasia, MD, PhD, University of Pennsylvania
- Principal Investigator: Brad V Voorhis, MD, University of Iowa
Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- 807101
- University of IOWA# 200707772