ID

45112

Description

Principal Investigator: Andrea Dunaif, MD, Northwestern University Feinberg School of Medicine, Chicago, IL, USA MeSH: Polycystic Ovary Syndrome https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000368 *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.

Link

https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000368

Keywords

Versions (4)
  1. 8/30/22 8/30/22 - Simon Heim
  2. 10/12/22 10/12/22 - Dr. Christian Niklas
  3. 10/12/22 10/12/22 - Dr. Christian Niklas
  4. 10/12/22 10/12/22 - Adrian Schulz
Copyright Holder

Andrea Dunaif, MD, Northwestern University Feinberg School of Medicine, Chicago, IL, USA

Uploaded on

August 30, 2022

DOI

To request one please log in.

License

Creative Commons BY 4.0
Model comments :

You can comment on the data model here. Via the speech bubbles at the itemgroups and items you can add comments to those specificially.

Back to model comments
Itemgroup comments for :

Item comments for :

In order to download data models you must be logged in. Please log in or register for free.

dbGaP phs000368 POLYGEN

English

Eligibility Criteria

6 forms  
Inclusion and exclusion criteria
Description

Inclusion and exclusion criteria

*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).
Description

*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).

Data type

boolean

Alias
UMLS CUI [1,1]
C1706256
UMLS CUI [1,2]
C0032460
UMLS CUI [1,3]
C0012854
UMLS CUI [1,4]
C0370003
UMLS CUI [1,5]
C0007457
UMLS CUI [2,1]
C0009932
UMLS CUI [2,2]
C3824747
*Identification of Cases* Patients must have met all of the following criteria:
Description

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

Data type

boolean

Alias
UMLS CUI [1,1]
C1706256
Females enrolled in one of the four participating PCOS studies
Description

Females enrolled in one of the four participating PCOS studies

Data type

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C1706256
UMLS CUI [1,3]
C0032460
UMLS CUI [1,4]
C0947630
Fulfill the NICHD criteria for the diagnosis of PCOS: <ol type="a">
Description

Fulfill the NICHD criteria for the diagnosis of PCOS: <ol type="a">

Data type

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C1706256
UMLS CUI [1,3]
C0032460
UMLS CUI [1,4]
C0011900
UMLS CUI [1,5]
C1513896
elevated total testosterone (T) or biologically available T (uT) level
Description

elevated total testosterone (T) or biologically available T (uT) level

Data type

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C1706256
UMLS CUI [1,3]
C2675018
chronic anovulation defined by <8 menses/year;
Description

chronic anovulation defined by <8 menses/year;

Data type

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C1706256
UMLS CUI [1,3]
C0003128
UMLS CUI [1,4]
C0205191
exclusion of specific disorders of the pituitary, ovary or adrenal.
Description

exclusion of specific disorders of the pituitary, ovary or adrenal.

Data type

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [1,2]
C1706256
UMLS CUI [1,3]
C0029928
UMLS CUI [1,4]
C0032002
UMLS CUI [1,5]
C0001621
*Identification of Controls* Patients must have met all of the following criteria:
Description

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

Data type

boolean

Alias
UMLS CUI [1,1]
C0009932
Females enrolled in NUgene
Description

Females enrolled in NUgene

Data type

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0009932
UMLS CUI [1,3]
C0086287
self-reported Caucasian but no self-reported African ancestry and no self-reported Hispanic/Latino ancestry
Description

self-reported Caucasian but no self-reported African ancestry and no self-reported Hispanic/Latino ancestry

Data type

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0009932
UMLS CUI [1,3]
C0007457
UMLS CUI [2,1]
C1512693
UMLS CUI [2,2]
C0009932
UMLS CUI [2,3]
C1518424
UMLS CUI [2,4]
C1298908
UMLS CUI [2,5]
C1257891
Back to the top of the page

Similar models

Eligibility Criteria

6 forms
Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
Inclusion and exclusion criteria
*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).
Item
*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).
boolean
C1706256 (UMLS CUI [1,1])
C0032460 (UMLS CUI [1,2])
C0012854 (UMLS CUI [1,3])
C0370003 (UMLS CUI [1,4])
C0007457 (UMLS CUI [1,5])
C0009932 (UMLS CUI [2,1])
C3824747 (UMLS CUI [2,2])
*Identification of Cases* Patients must have met all of the following criteria:
Item
*Identification of Cases* Patients must have met all of the following criteria:
boolean
C1706256 (UMLS CUI [1,1])
Females enrolled in one of the four participating PCOS studies
Item
Females enrolled in one of the four participating PCOS studies
boolean
C1512693 (UMLS CUI [1,1])
C1706256 (UMLS CUI [1,2])
C0032460 (UMLS CUI [1,3])
C0947630 (UMLS CUI [1,4])
Fulfill the NICHD criteria for the diagnosis of PCOS: <ol type="a">
Item
Fulfill the NICHD criteria for the diagnosis of PCOS: <ol type="a">
boolean
C1512693 (UMLS CUI [1,1])
C1706256 (UMLS CUI [1,2])
C0032460 (UMLS CUI [1,3])
C0011900 (UMLS CUI [1,4])
C1513896 (UMLS CUI [1,5])
elevated total testosterone (T) or biologically available T (uT) level
Item
elevated total testosterone (T) or biologically available T (uT) level
boolean
C1512693 (UMLS CUI [1,1])
C1706256 (UMLS CUI [1,2])
C2675018 (UMLS CUI [1,3])
chronic anovulation defined by <8 menses/year;
Item
chronic anovulation defined by <8 menses/year;
boolean
C1512693 (UMLS CUI [1,1])
C1706256 (UMLS CUI [1,2])
C0003128 (UMLS CUI [1,3])
C0205191 (UMLS CUI [1,4])
exclusion of specific disorders of the pituitary, ovary or adrenal.
Item
exclusion of specific disorders of the pituitary, ovary or adrenal.
boolean
C0680251 (UMLS CUI [1,1])
C1706256 (UMLS CUI [1,2])
C0029928 (UMLS CUI [1,3])
C0032002 (UMLS CUI [1,4])
C0001621 (UMLS CUI [1,5])
*Identification of Controls* Patients must have met all of the following criteria:
Item
*Identification of Controls* Patients must have met all of the following criteria:
boolean
C0009932 (UMLS CUI [1,1])
Females enrolled in NUgene
Item
Females enrolled in NUgene
boolean
C1512693 (UMLS CUI [1,1])
C0009932 (UMLS CUI [1,2])
C0086287 (UMLS CUI [1,3])
self-reported Caucasian but no self-reported African ancestry and no self-reported Hispanic/Latino ancestry
Item
self-reported Caucasian but no self-reported African ancestry and no self-reported Hispanic/Latino ancestry
boolean
C1512693 (UMLS CUI [1,1])
C0009932 (UMLS CUI [1,2])
C0007457 (UMLS CUI [1,3])
C1512693 (UMLS CUI [2,1])
C0009932 (UMLS CUI [2,2])
C1518424 (UMLS CUI [2,3])
C1298908 (UMLS CUI [2,4])
C1257891 (UMLS CUI [2,5])
Back to the top of the page 

Contact

Please use this form for feedback, questions and suggestions for improvements.

Fields marked with * are required.

Help

Do you need help on how to use the search function? Please watch the corresponding tutorial video for more details and learn how to use the search function most efficiently.

Watch Tutorial