Genetics of Polycystic Ovary Syndrome

Population Genetics of Polycystic Ovary Syndrome

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.

Study Overview

• Status: Completed
• Conditions: PCOS

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 Type: Observational
• Enrollment (Actual): 189

Contacts and Locations

Study Locations

• United States
  • Pennsylvania
    • Philadelphia, Pennsylvania, United States, 19104
      • University of Pennsylvania

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: Female

• Sampling Method: Non-Probability Sample

Study Population

Women with a diagnosis of PCOS undergoing treatment at University of Pennsylvania and University of Iowa.

Description

Inclusion Criteria:

• Diagnosis of PCOS
• Both biological parents alive
• Yes to both answers and parents willing to participate

Exclusion Criteria:

• Healthy women

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
1; Women with diagnosis of PCOS

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
PCOS gene identification.	December 2010

Collaborators and Investigators

• Sponsor: University of Pennsylvania
• Collaborators: University of Iowa
• Investigators: Principal Investigator: Anuja Dokras-Jagasia, MD, PhD, University of Pennsylvania; Principal Investigator: Brad V Voorhis, MD, University of Iowa

Study record dates

Study Major Dates

• Study Start: February 1, 2008
• Primary Completion (Actual): January 1, 2012
• Study Completion (Actual): January 1, 2012

Study Registration Dates

• First Submitted: March 26, 2008
• First Submitted That Met QC Criteria: March 28, 2008
• First Posted (Estimate): March 31, 2008

Study Record Updates

• Last Update Posted (Estimate): May 13, 2013
• Last Update Submitted That Met QC Criteria: May 8, 2013
• Last Verified: November 1, 2011

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Neoplasms; Endocrine System Diseases; Ovarian Cysts; Cysts; Ovarian Diseases; Adnexal Diseases; Gonadal Disorders; Polycystic Ovary Syndrome
• Other Study ID Numbers: 807101; University of IOWA# 200707772