ID

45138

Descrição

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

dbGaP study=phs000368

Palavras-chave

Versões (4)

1. 30/08/2022 30/08/2022 - Simon Heim
2. 12/10/2022 12/10/2022 - Dr. Christian Niklas
3. 12/10/2022 12/10/2022 - Dr. Christian Niklas
4. 12/10/2022 12/10/2022 - Adrian Schulz

Titular dos direitos

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

Transferido a

12 de outubro de 2022

DOI

Para um pedido faça login.

Licença