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dbGaP phs000304 Genes and Blood Clotting Study (GABC) - pht004468.v1.p1

- 12/10/22 - 6 Formulare, 1 Itemgruppe, 7 Datenelemente, 1 Sprache
Itemgruppe: pht004468
Principal Investigator: David Ginsburg, MD, University of Michigan, Ann Arbor, MI, USA MeSH: von Willebrand Disease,Epistaxis,Stomatitis, Aphthous,Menarche,Menorrhagia,Acne Vulgaris,Eye Color,Hair Color,Sunburn,Skin Pigmentation,Freckles,Dental Caries,Migraine Disorders,Rhinitis, Allergic, Seasonal,Eye Diseases,Refractive Errors,Flatfoot,Functional Laterality,Venous Thromboembolism https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000304 *Objectives:* Use genome-wide approaches to identify genetic variants that influence common thrombosis and hemostasis factors, as well as selected common human traits. *Design/Methods:* The GABC study was a prospective sibling cohort design. Siblings were recruited by targeted email to the undergraduate and graduate student email lists at the University of Michigan. Healthy persons between 14 and 35 years old who had healthy siblings within the same age restriction were able to participate. Study participants agreed to an online informed consent and subsequently completed a 52-question online survey describing their specific bleeding traits as well as many common human traits. Fifty milliliters of blood was collected into a citrate-dextrose solution (ACD) from each participant. An aliquot of whole blood was used for an automated complete blood count analysis and the remainder was processed into platelet poor plasma and buffy coat portions. Plasma and buffy coat aliquots were snap frozen and stored in liquid nitrogen for future studies. 1189 individuals representing 507 sibships were collected between 06/26/2006 and 01/30/2009. *Phenotyping Survey Details:* To characterize individual bruising and bleeding history, the online survey recorded answers to questions based on a modified von Willebrand Disease (VWD) screening questionnaire. To characterize a collection of participant's common human traits, the survey recorded answers to questions about height, weight, presence of skin tags, history of acne, eye color, hair color, hair line characteristics, skin sunburn sensitivity, skin tanning ability, natural skin color, freckling, cheek dimpling, earlobe shape, shoe size, foot arch characteristics, hand fifth digit morphology, history of dyslexia, history of migraine headaches, history of seasonal allergies, history of apthous ulcers, tendency to sneeze while walking into a bright sunny place, history of dental caries, need for corrective eye lenses, handedness and like or dislike of strongly flavored foods. *Biochemical phenotyping:* Assays for plasma Von Willebrand Factor (VWF) antigen were performed using ELISA and "Alphalisa" techniques. Automated complete blood count analysis was performed on a Bayer Advia 120 on all participants (including WBC differential, RBC indices, and platelet count.) For the dbGaP v2 update, new biochemical phenotypes have been submitted and include von Willebrand Factor, von Willebrand Factor propeptide, plasminogen, gamma prime fibrinogen, ADAMTS 13, antithrombin III, protein C, and protein S. All new phenotypes were obtained using "Alphalisa" techniques. *Genotyping Details:* SNP genotyping was performed using genomic DNA extracted from peripheral blood at the Broad Institute, (MIT/Harvard). Genotyping was performed on the Illumina Omni-1 quad chip at the Broad Institute. For the dbGaP v2 update, genotyping data from the Illumina Human Exome was deposited. This study is part of the Gene Environment Association Studies initiative (GENEVA, http://www.genevastudy.org) funded by the trans-NIH Genes, Environment, and Health Initiative (GEI). The overarching goal is to identify novel genetic factors that contribute to blood clotting through large-scale genome-wide association studies of siblings. Genotyping was performed at the Broad Institute of MIT and Harvard, a GENEVA genotyping center. Data cleaning and harmonization was performed by the primary investigators at the University of Michigan, Ann Arbor, and at the GEI-funded GENEVA Coordinating Center at the University of Washington. This study serves as a resource for investigators who are interested in the genetic determinants of specific plasma proteins in a healthy population. The sibling cohort design allows for linkage analysis in addition to association studies. Analysis of thrombosis and hemostasis related traits should help elucidate specific biochemical and genetic networks that maintain hemostasis. We hope to identify specific genetic determinants of VWF levels in order to better understand the factors that influence the development of VWD.

Eligibility

1 Itemgruppe 2 Datenelemente

pht001907.v2.p1

1 Itemgruppe 83 Datenelemente

pht001904.v1.p1

1 Itemgruppe 4 Datenelemente

pht001905.v1.p1

1 Itemgruppe 6 Datenelemente

pht001906.v2.p1

1 Itemgruppe 5 Datenelemente

dbGaP phs001237 NHLBI TOPMed: Women's Health Initiative (WHI) - pht005988.v3.p1

- 21/3/23 - 4 Formulare, 1 Itemgruppe, 2 Datenelemente, 1 Sprache
Itemgruppe: pht005988
Principal Investigator: Charles Kooperberg, PhD, Fred Hutchinson Cancer Research Center, Seattle, WA, USA MeSH: Stroke,Venous Thromboembolism https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001237 This is Whole Genome Sequencing data from the TOPMed participation of the Women's Health Initiative. Approximately 11,100 subjects were involved in this study: approximately 1,100 cases of VTE, 4,000 cases of ischemic stroke, 900 cases of hemorrhagic stroke, and 5,100 controls. Summary level phenotypes for the WHI Cohort study participants can be viewed at the top-level study page phs000200 WHI Cohort. Individual level phenotype data and molecular data for all WHI top-level study and substudies are available by requesting Authorized Access to the WHI Cohort study phs000200.

pht005989.v3.p1

1 Itemgruppe 9 Datenelemente

Eligibility

1 Itemgruppe 1 Datenelement

pht005987.v2.p1

1 Itemgruppe 5 Datenelemente

dbGaP phs001368 NHLBI TOPMed: Trans-Omics for Precision Medicine (TOPMed) Whole Genome Sequencing Project: Cardiovascular Health Study - Eligibility

- 21/2/23 - 4 Formulare, 1 Itemgruppe, 4 Datenelemente, 1 Sprache
Itemgruppe: IG.elig
Principal Investigator: Bruce M. Psaty, MD, PhD, TOPMed Cardiovascular Health Study Project (TOPMed-CHS). University of Washington, Seattle, WA, USA MeSH: Cardiovascular Diseases,Myocardial Infarction,Stroke,Brain Ischemia,Intracranial Hemorrhage,Venous Thromboembolism,Venous Thrombosis,Pulmonary Embolism https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001368 Participants from the Cardiovascular Health Study (CHS), a large population-based longitudinal cohort study (phs000287), have been included in the TOPMed project. Whole genome sequencing will be performed to contribute to multiple analyses, including cardiovascular disease risk factors, subclinical disease measures, the occurrence of myocardial infarction (MI) and stroke, and analyses of venous thromboembolism (VTE).

pht007957.v3.p2

1 Itemgruppe 3 Datenelemente

pht007958.v3.p2

1 Itemgruppe 2 Datenelemente

pht007959.v3.p2

1 Itemgruppe 12 Datenelemente

Input Data Elements CDSS VTE prophylaxis Mitchell 2012

- 11/10/16 - 1 Formular, 9 Itemgruppen, 50 Datenelemente, 1 Sprache
Itemgruppen: Patient status, Cardiovascular diseases, Gastrointestinal diseases, Pulmonary diseases, Renal diseases, Hematologic/Oncologic diseases, Gynecology, Drugs, Contraindications
Input Data Elements CDSS for VTE prophylaxis to determine wether a simple electronic reminder increases prophylaxis rates and reduces VTE rates. Published by Mitchell et al. 2012

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