GENETICS OF FAMILIAL POLYCYSTIC OVARY SYNDROME

Project: Research project

Project Details

Description

Polycystic ovary syndrome (PCOS) is the most common endocrine disorder in
women of reproductive age. Its sequelae impact on most major health issues
facing women, including diabetes, hypertension, cardiovascular disease and
gynecological cancers. Despite extensive research, its etiology is
unknown, and no consensus exists for its definition other than
hyperandrogenic chronic anovulation. Previous studies have shown a strong
familial tendency for PCOS. Though an autosomal pattern of inheritance
seems probable, most studies have been inadequate. Other disorder which
can produce phenocopies have not been eliminated. Additionally the
phenotype of males and females of non-reproductive age has never been
thoroughly established. We plan to intensively study a few large three
generation kindreds of PCOS to reduce genetic heterogeneity. A normative
data base will be established for age, weight, and ethnicity matched
controls. Our specific aims are to fully phenotypic previously identified
kindreds of familial PCOS for clinical, biometric, and biochemical
abnormalities. These will include historical characteristics, physical
exam findings including ultrasound exam, reproductive hormone profiles, and
assessment of insulin resistance. All available pedigree members, male and
female will be phenotyped. The search is ultimately for a clinical marker
or constellation of markers that are specific for the kindred as well as
document the full range of metabolic abnormalities from a representative
kindred. Segregation analysis of each of these phenotypes in isolation or
in combination will determine the most predictable mode of inheritance. In
the process we will assemble a DNA bank on complete PCOS pedigrees for
genetic studies. We will then perform linkage analysis with regularly
spaced polymorphic genetic marker to map a disease locus. We will begin
with a rough survey of the genome using markers spaced at 20CM and refine
it to higher resolution markers as necessary. Identifying a disease locus
would ease identification of the disease gene. Ultimately such a genetic
marker would be useful in identifying women at risk for developing PCOS
prior to onset of complications. Medical resources could then be focused
on preventing such complications.
StatusFinished
Effective start/end date3/1/962/28/01

Funding

  • Eunice Kennedy Shriver National Institute of Child Health and Human Development
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development: $80,784.00
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development

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