Whole Genome Analysis for the Detection of Key Genes in the Polycystic Ovary Syndrome

NCT00665171 | Unknown

• 1 other identifier: pcodsnp
• Study Type: observational
• Target: 1,500
• Locations: 1 country
• Sites: 1

Brief Summary

Background: Infertility affects up to 15% of married couples. About half are attributable to female factors, among which anovulation is the leading cause. Some 5% of all women of reproductive age are anovulatory due to the polycystic ovarian syndrome (PCOS). PCOS causes also major health and cosmetic problems and significantly affects quality of life. PCOS is associated with cardiovascular morbidity and Type 2 diabetes mellitus, but it is unclear whether these are caused by the ovarian dysfunction or result from a common denominator. Working hypothesis and aims: Whole genome analysis of multigenerational families in which at least one woman is affected by PCOS may significantly reduce the numbers needed to verify the specific genes, involved in the causation of PCOS. Methods: Registration of multigenerational families and production of personal files with full workup for the presence of PCOS or its absence (in the women participants). Drawing of blood, extraction and preservation of DNA. Analysis of all informative SNPs in the genomes of the participants on a specific microarray chip. Statistical analysis of the results. Expected results: Verification of the loci and putative genes, associated with the appearance of PCOS. Importance: Elucidation of the specific genes underlying the pathology of PCOS. Probable implications to Medicine: Paving the way for targeted treatment of the problems, associated with PCOS, based on the clear knowledge of its underlying cause(s).

Conditions

Anovulation; Hyperandrogenism; Polycystic Ovary Syndrome; Single Nucleotide Polymorphism

Keywords

Polycystic ovary syndrome; Single nucleotide polymorphism; Whole genome analysis; Multigenerational family study

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Multigenerational families with at least one woman affected with the polycystic ovary syndrome.

You may qualify if:

• A clinical and laboratory diagnosis of the polycystic ovary syndrome (cases). Female family members of index cases, up to a great grandmother and fathers of index cases.

You may not qualify if:

• None.

Sponsors & Collaborators

• Maaynei Hayesha Medical Center: lead

Study Sites (1)

Department of Obstetrics and Gynecology, Maaynei Hayeshua Medical Center

Bnei Brak, Israel

Location

Biospecimen

Retention: SAMPLES WITH DNA

The study aims to perform a whole genome analysis for the detection of genes, associated with the polycystic ovary syndrome. Therefore, the main clinical effort is the diagnosis of index cases and recruitment of family members to give DNA samples.

MeSH Terms

Conditions

Anovulation; Hyperandrogenism; Polycystic Ovary Syndrome

Condition Hierarchy (Ancestors)

Ovarian Diseases; Adnexal Diseases; Genital Diseases, Female; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Genital Diseases; Gonadal Disorders; Endocrine System Diseases; 46, XX Disorders of Sex Development; Disorders of Sex Development; Urogenital Abnormalities; Adrenogenital Syndrome; Male Urogenital Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Ovarian Cysts; Cysts; Neoplasms

Study Officials

• Izhar Ben-Shlomo, MD

  Maaynei Hayeshua Medical Center

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER

Study Record Dates

• First Submitted: April 18, 2008
• First Posted: April 23, 2008
• Study Start: June 1, 2008
• Last Updated: April 23, 2008

Record last verified: 2008-04

Locations

IL (1)