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Title: POLYGEN      
citations:
19401371
19351735
17785364
17237837
19782423
description:
PCOS is a complex genetic disease reflecting the interplay of susceptibility genes and environmental factors. The cardinal reproductive feature of the syndrome, hyperandrogenemia, appears to play a direct role in the pathogenesis of the associated metabolic abnormalities. Male as well as female first-degree relatives have reproductive and metabolic phenotypes including increased prevalence rates of type 2 diabetes (T2D), metabolic syndrome (MBS) and other risk factors for cardiovascular disease (CVD). Northwestern University (NU) investigators lead a team that has extensive experience in phenotyping PCOS and in the genetic analysis of complex diseases including genome-wide association study (GWAS). Together with an expert group of collaborators from the Hershey Medical Center, and The University of Chicago, we have conducted a GWAS to identify PCOS susceptibility alleles using a large cohort of extensively and consistently phenotyped PCOS cases. Population controls for this study come from the NUgene project described below. NUgene project: In 2002, Northwestern committed to the development of a DNA repository to serve as a platform for the identification and validation of genotype-phenotype associations that will impact healthcare. The NUgene Project is a repository with longitudinal medical information from participating patients at affiliated hospitals and outpatient clinics from the Northwestern University Medical Center. Participants' DNA samples are coupled with data from a questionnaire (2 versions were used, 1 before and 1 after February 2006, both are included) and continuously updated data from our Electronic Medical Record (EMR) representing actual clinical care events. Northwestern has a state-of-the art, comprehensive inpatient and outpatient EMR system of over 2 million patients. NUgene has broad access to participant data for all outpatient visits as well as inpatient data via a consolidated data warehouse. NUgene participants consent to distribution and use of their coded DNA samples and data for a broad range of genetic research by third-party investigators.
Identifier:
phs000368.v1.p1
accesstypes:
download
enclave
landingpage: http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000368.v1.p1
authentication: simpleLogin
none
authorization:
none
duaIndividual
name:
Polycystic Ovary Syndrome
affiliations:
Northwestern University Feinberg School of Medicine, Chicago, IL, USA
name:
Andrea Dunaif, MD
roles:
Principal Investigator
affiliations:
National Institutes of Health, Bethesda, MD, USA
name:
R01HD057223
roles:
Funding Source
performedBy:
TitleNameInstitute Principal InvestigatorAndrea Dunaif, MDNorthwestern University Feinberg School of Medicine, Chicago, IL, USA Funding SourceR01HD057223National Institutes of Health, Bethesda, MD, USA
downloadURL: https://dbgap.ncbi.nlm.nih.gov/aa/wga.cgi?page=DUC&view_pdf&stacc=phs000368.v1.p1
Identifier:
phs000368.v1.p1_policy
name:
Data Use Certificate
Identifier:
0
name:
Subjects did not participate in the study, did not complete a consent document and are included only for the pedigree structure and/or genotype controls, such as HapMap subjects.
Identifier:
1
name:
Genetic Analysis of Polycystic Ovary Syndrome
Identifier:
2
name:
NUgene Biorepository
schedulesActivity:
Time Line 2010 - Samples shipped and received at CIDR 2011 - Genotyping of samples complete 2011 - Genotyping QC complete
alternateIdentifiers:
yes
selectionCriteria:

Study population
Suitable participant DNA samples from females self-identified as Caucasian or European-ancestry were selected from PCOS clinical study participants (cases), and from the NUgene biobank (controls).

Identification of Cases
Patients must have met all of the following criteria:

  1. Females enrolled in one of the four participating PCOS studies
  2. Fulfill the NICHD criteria for the diagnosis of PCOS:
    1. elevated total testosterone (T) or biologically available T (uT) level
    2. chronic anovulation defined by <8 menses/year;
    3. exclusion of specific disorders of the pituitary, ovary or adrenal.

Identification of Controls
Patients must have met all of the following criteria:

  1. Females enrolled in NUgene
  2. self-reported Caucasian but no self-reported African ancestry and no self-reported Hispanic/Latino ancestry

types:
Case-Control
dateReleased:
06-20-2011
version:
phs000368.v1.p1
dateModified:
11-25-2011
abbreviation:
NICHD
name:
NICHD-DAC
ID:
0
name:
dbGaP