ID

45508

Beschreibung

Principal Investigator: Ronald M. Krauss, MD, University of California San Francisco, Oakland, CA, USA MeSH: Hypercholesterolemia,Cardiovascular Diseases,Hydroxymethylglutaryl-CoA Reductase Inhibitors https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000481 The Cholesterol and Pharmacogenetics Study was a 6-week open label, non-randomized study of 40mg/day simvastatin treatment in 335 black and 609 white (944 total) men and women. Plasma lipids and lipoproteins were measured on two occasions prior to treatment and at 4 and 6 weeks of treatment. The study was designed to test for genetic associations with baseline measurements and changes in response to simvastatin treatment. Whole genome genotyping was performed on 592 white CAP study participants in two stages. In Stage 1, 304 were genotyped for 314,621 SNPs to tag for common genomic variation. In Stage 2, 290 participants were genotyped, including 280 who were genotyped for 620,901 SNPs. Two samples were excluded due to gender discrepancies. More recently, CAP self-reported black participants were genotyped on Illumina Omni2.5Exome chips. PolyA-selected strand-specific RNA-seq libraries were generated in several batches from lymphoblastoid cell lines (LCLs) derived from 268 white and 165 black CAP participants. The LCLs were exposed to sham buffer (control) or 2 uM activated simvastatin for 24 hours, producing a total of 866 100/101 bp paired end RNA-seq libraries sequenced on Illumina HiSeq 2000 machines.

Link

dbGap study = phs000481

Stichworte

  1. 16/11/2022 16/11/2022 - Kristina Keller
  2. 13/12/2022 13/12/2022 - Kristina Keller
Rechteinhaber

Ronald M. Krauss, MD, University of California San Francisco, Oakland, CA, USA

Hochgeladen am

13 de dezembro de 2022

DOI

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Lizenz

Creative Commons BY 4.0

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dbGaP phs000481 Cholesterol and Pharmacogenetics (CAP) Study

Eligibility Criteria

Inclusion and exclusion criteria
Beschreibung

Inclusion and exclusion criteria

Alias
UMLS CUI [1,1]
C1516637
UMLS CUI [1,2]
C1512693
UMLS CUI [1,3]
C0680251
Inclusion Criteria:
Beschreibung

Elig.phs000481.v3.p2.1

Datentyp

boolean

Alias
UMLS CUI [1,1]
C1512693
at least 30 years of age
Beschreibung

Elig.phs000481.v3.p2.2

Datentyp

boolean

Alias
UMLS CUI [1,1]
C0001779
UMLS CUI [1,2]
C1524031
Total cholesterol between 160 to 400 mg/dl
Beschreibung

Elig.phs000481.v3.p2.3

Datentyp

boolean

Alias
UMLS CUI [1,1]
C1445957
UMLS CUI [1,2]
C1514721
≥ 3 black (predominantly African American) grandparents or ≥ 3 white (predominantly European American) grandparents
Beschreibung

Elig.phs000481.v3.p2.4

Datentyp

boolean

Alias
UMLS CUI [1,1]
C0085756
UMLS CUI [1,2]
C0034510
UMLS CUI [1,3]
C1535514
UMLS CUI [1,4]
C0007457
UMLS CUI [1,5]
C0337471
serum triglycerides < 400 mg/dl
Beschreibung

Elig.phs000481.v3.p2.5

Datentyp

boolean

Alias
UMLS CUI [1,1]
C0202236
UMLS CUI [1,2]
C0229671
fasting glucose < 126 mg/dl
Beschreibung

Elig.phs000481.v3.p2.6

Datentyp

boolean

Alias
UMLS CUI [1,1]
C0583513
Exclusion Criteria:
Beschreibung

Elig.phs000481.v3.p2.7

Datentyp

boolean

Alias
UMLS CUI [1,1]
C0680251
Use of lipid-lowering medication
Beschreibung

Elig.phs000481.v3.p2.8

Datentyp

boolean

Alias
UMLS CUI [1,1]
C0585943
Use of over-the-counter products containing sterol or stanol esters or fish oil
Beschreibung

Elig.phs000481.v3.p2.9

Datentyp

boolean

Alias
UMLS CUI [1,1]
C2709201
UMLS CUI [1,2]
C0013227
UMLS CUI [1,3]
C0038323
UMLS CUI [1,4]
C0872973
UMLS CUI [1,5]
C0016157
Recent or planned change in dietary intake or weight change of more than 4.5 kg
Beschreibung

Elig.phs000481.v3.p2.10

Datentyp

boolean

Alias
UMLS CUI [1,1]
C0005911
UMLS CUI [2,1]
C3671772
Use of corticosteroids, immunosuppressive drugs or drugs affecting the CYP3A4 system
Beschreibung

Elig.phs000481.v3.p2.11

Datentyp

boolean

Alias
UMLS CUI [1,1]
C2825233
UMLS CUI [2,1]
C0021081
UMLS CUI [3,1]
C0013227
UMLS CUI [3,2]
C3830624
UMLS CUI [3,3]
C3830625
Known liver disease or elevated transaminase levels
Beschreibung

Elig.phs000481.v3.p2.12

Datentyp

boolean

Alias
UMLS CUI [1,1]
C0023895
UMLS CUI [2,1]
C0438717
Elevated creatine phosphokinase levels > 10 times upper limits of normal
Beschreibung

Elig.phs000481.v3.p2.13

Datentyp

boolean

Alias
UMLS CUI [1,1]
C0151576
Uncontrolled blood pressure, or diabetes mellitus
Beschreibung

Elig.phs000481.v3.p2.14

Datentyp

boolean

Alias
UMLS CUI [1,1]
C1868885
UMLS CUI [2,1]
C0011849
Abnormal renal or thyroid function
Beschreibung

Elig.phs000481.v3.p2.15

Datentyp

boolean

Alias
UMLS CUI [1,1]
C0205161
UMLS CUI [1,2]
C0232804
UMLS CUI [1,3]
C0476414
Current alcohol or drug abuse
Beschreibung

Elig.phs000481.v3.p2.16

Datentyp

boolean

Alias
UMLS CUI [1,1]
C0038586
UMLS CUI [1,2]
C0521116
Major illness in the preceding three months
Beschreibung

Elig.phs000481.v3.p2.17

Datentyp

boolean

Alias
UMLS CUI [1,1]
C0221423
UMLS CUI [1,2]
C0205164
Pregnancy
Beschreibung

Elig.phs000481.v3.p2.18

Datentyp

boolean

Alias
UMLS CUI [1,1]
C0032961
Know intolerance to statins
Beschreibung

Elig.phs000481.v3.p2.19

Datentyp

boolean

Alias
UMLS CUI [1,1]
C1744706
UMLS CUI [1,2]
C0360714
Racial ancestry other than African-American or Caucasian
Beschreibung

Elig.phs000481.v3.p2.20

Datentyp

boolean

Alias
UMLS CUI [1,1]
C0034510
UMLS CUI [1,2]
C0085756
UMLS CUI [1,3]
C0043157
UMLS CUI [1,4]
C0332300

Ähnliche Modelle

Eligibility Criteria

Name
Typ
Description | Question | Decode (Coded Value)
Datentyp
Alias
Item Group
Inclusion and exclusion criteria
C1516637 (UMLS CUI [1,1])
C1512693 (UMLS CUI [1,2])
C0680251 (UMLS CUI [1,3])
Elig.phs000481.v3.p2.1
Item
Inclusion Criteria:
boolean
C1512693 (UMLS CUI [1,1])
Elig.phs000481.v3.p2.2
Item
at least 30 years of age
boolean
C0001779 (UMLS CUI [1,1])
C1524031 (UMLS CUI [1,2])
Elig.phs000481.v3.p2.3
Item
Total cholesterol between 160 to 400 mg/dl
boolean
C1445957 (UMLS CUI [1,1])
C1514721 (UMLS CUI [1,2])
Elig.phs000481.v3.p2.4
Item
≥ 3 black (predominantly African American) grandparents or ≥ 3 white (predominantly European American) grandparents
boolean
C0085756 (UMLS CUI [1,1])
C0034510 (UMLS CUI [1,2])
C1535514 (UMLS CUI [1,3])
C0007457 (UMLS CUI [1,4])
C0337471 (UMLS CUI [1,5])
Elig.phs000481.v3.p2.5
Item
serum triglycerides < 400 mg/dl
boolean
C0202236 (UMLS CUI [1,1])
C0229671 (UMLS CUI [1,2])
Elig.phs000481.v3.p2.6
Item
fasting glucose < 126 mg/dl
boolean
C0583513 (UMLS CUI [1,1])
Elig.phs000481.v3.p2.7
Item
Exclusion Criteria:
boolean
C0680251 (UMLS CUI [1,1])
Elig.phs000481.v3.p2.8
Item
Use of lipid-lowering medication
boolean
C0585943 (UMLS CUI [1,1])
Elig.phs000481.v3.p2.9
Item
Use of over-the-counter products containing sterol or stanol esters or fish oil
boolean
C2709201 (UMLS CUI [1,1])
C0013227 (UMLS CUI [1,2])
C0038323 (UMLS CUI [1,3])
C0872973 (UMLS CUI [1,4])
C0016157 (UMLS CUI [1,5])
Elig.phs000481.v3.p2.10
Item
Recent or planned change in dietary intake or weight change of more than 4.5 kg
boolean
C0005911 (UMLS CUI [1,1])
C3671772 (UMLS CUI [2,1])
Elig.phs000481.v3.p2.11
Item
Use of corticosteroids, immunosuppressive drugs or drugs affecting the CYP3A4 system
boolean
C2825233 (UMLS CUI [1,1])
C0021081 (UMLS CUI [2,1])
C0013227 (UMLS CUI [3,1])
C3830624 (UMLS CUI [3,2])
C3830625 (UMLS CUI [3,3])
Elig.phs000481.v3.p2.12
Item
Known liver disease or elevated transaminase levels
boolean
C0023895 (UMLS CUI [1,1])
C0438717 (UMLS CUI [2,1])
Elig.phs000481.v3.p2.13
Item
Elevated creatine phosphokinase levels > 10 times upper limits of normal
boolean
C0151576 (UMLS CUI [1,1])
Elig.phs000481.v3.p2.14
Item
Uncontrolled blood pressure, or diabetes mellitus
boolean
C1868885 (UMLS CUI [1,1])
C0011849 (UMLS CUI [2,1])
Elig.phs000481.v3.p2.15
Item
Abnormal renal or thyroid function
boolean
C0205161 (UMLS CUI [1,1])
C0232804 (UMLS CUI [1,2])
C0476414 (UMLS CUI [1,3])
Elig.phs000481.v3.p2.16
Item
Current alcohol or drug abuse
boolean
C0038586 (UMLS CUI [1,1])
C0521116 (UMLS CUI [1,2])
Elig.phs000481.v3.p2.17
Item
Major illness in the preceding three months
boolean
C0221423 (UMLS CUI [1,1])
C0205164 (UMLS CUI [1,2])
Elig.phs000481.v3.p2.18
Item
Pregnancy
boolean
C0032961 (UMLS CUI [1,1])
Elig.phs000481.v3.p2.19
Item
Know intolerance to statins
boolean
C1744706 (UMLS CUI [1,1])
C0360714 (UMLS CUI [1,2])
Elig.phs000481.v3.p2.20
Item
Racial ancestry other than African-American or Caucasian
boolean
C0034510 (UMLS CUI [1,1])
C0085756 (UMLS CUI [1,2])
C0043157 (UMLS CUI [1,3])
C0332300 (UMLS CUI [1,4])

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