ID

45378

Beschreibung

Principal Investigator: Gail Jarvik, MD, PhD, University of Washington, Seattle, WA, USA MeSH: Hyperlipidemia, Familial Combined https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000538 The NHGRI Next Generation Mendelian Genetics project uses exome resequencing to identify variants in unsolved Mendelian diseases. The research study procedures included the collection of a fasting blood sample, 2 medical history/life style questionnaires and a measurement of subjects' waist circumference that were completed many years ago. Blood samples were analyzed for metabolic markers including cholesterol, HDL, triglycerides and APOE. Genetic tests targeted known and novel genes and polymorphisms associated with carotid artery disease.

Link

https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000538

Stichworte

  1. 07.11.22 07.11.22 - Simon Heim
  2. 13.12.22 13.12.22 - Kristina Keller
Rechteinhaber

Gail Jarvik, MD, PhD, University of Washington, Seattle, WA, USA

Hochgeladen am

7. November 2022

DOI

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Lizenz

Creative Commons BY 4.0

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dbGaP phs000538 Next Generation Mendelian Genetics: Familial Combined Hyperlipidemia

Eligibility Criteria

Inclusion and exclusion criteria
Beschreibung

Inclusion and exclusion criteria

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0680251
Elevated metabolic lipoprotein values
Beschreibung

Elevated metabolic lipoprotein values

Datentyp

boolean

Alias
UMLS CUI [1,1]
C3163633
UMLS CUI [1,2]
C0023820
Family member with elevated metabolic lipoprotein values
Beschreibung

Family member with elevated metabolic lipoprotein values

Datentyp

boolean

Alias
UMLS CUI [1,1]
C0086282
UMLS CUI [1,2]
C3163633
UMLS CUI [1,3]
C0023820
Personal or family history of cardiovascular disease
Beschreibung

Personal or family history of cardiovascular disease

Datentyp

boolean

Alias
UMLS CUI [1,1]
C0455539
UMLS CUI [1,2]
C0241889
UMLS CUI [1,3]
C0007222

Ähnliche Modelle

Eligibility Criteria

Name
Typ
Description | Question | Decode (Coded Value)
Datentyp
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
Elevated metabolic lipoprotein values
Item
Elevated metabolic lipoprotein values
boolean
C3163633 (UMLS CUI [1,1])
C0023820 (UMLS CUI [1,2])
Family member with elevated metabolic lipoprotein values
Item
Family member with elevated metabolic lipoprotein values
boolean
C0086282 (UMLS CUI [1,1])
C3163633 (UMLS CUI [1,2])
C0023820 (UMLS CUI [1,3])
Personal or family history of cardiovascular disease
Item
Personal or family history of cardiovascular disease
boolean
C0455539 (UMLS CUI [1,1])
C0241889 (UMLS CUI [1,2])
C0007222 (UMLS CUI [1,3])

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