ID

45174

Descrizione

Principal Investigator: Dan Roden, MD, Vanderbilt University Medical Center, Nashville, TN, USA MeSH: Long QT Syndrome,Torsades de Pointes https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000331 The goal of this study was to identify genetic risk factors for drug-induced prolongation of the QT interval (diLQT) and the ventricular arrhythmia torsades de pointes (TdP). We conducted a genome-wide association study (GWAS) focusing on subjects with a history of long QT and/or TdP after taking medication. Controls for this study were individuals with a history of cardiac arrhythmias who had begun treatment with potentially QT-prolonging antiarrhythmics. An additional control group of normal volunteers were given ibutilide, a drug with documented proarrhythmic properties. All study participants were recruited and treated/evaluated at Vanderbilt University Medical Center. This study was conducted by the Pharmacogenomics of Arrhythmia Therapy subgroup of the Pharmacogenetics Research Network, a nationwide collaboration of scientists studying the genetic contributions to drug response variability. Genotyping was performed by the RIKEN research institute in Japan using the Illumina 610 Quad Beadchip platform.

collegamento

dbGaP study = phs000331

Keywords

versioni (2)
  1. 22/08/22 22/08/22 - Simon Heim
  2. 12/10/22 12/10/22 - Adrian Schulz
Titolare del copyright

Dan Roden, MD, Vanderbilt University Medical Center, Nashville, TN, USA

Caricato su

12 ottobre 2022

DOI

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Licenza

Creative Commons BY 4.0
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dbGaP phs000331 PGRN-RIKEN: Genome-Wide Association Study of Drug-Induced Long-QT Syndrome

Inglese

Eligibility Criteria

4 moduli  
Inclusion and exclusion criteria
Descrizione

Inclusion and exclusion criteria

*Inclusion criteria for Cases:* Cases were defined as those subjects ≥18 years of age at the time of an incident of drug-induced LQTS and/or TdP who had one of the following:
Descrizione

*Inclusion criteria for Cases:* Cases were defined as those subjects ≥18 years of age at the time of an incident of drug-induced LQTS and/or TdP who had one of the following:

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C1706256
UMLS CUI [1,3]
C0001779
UMLS CUI [1,4]
C0023976
UMLS CUI [1,5]
C0040479
An uncorrected QT interval ≥600 msec while on drug that decreased to <480 msec following withdrawal of drug;
Descrizione

An uncorrected QT interval ≥600 msec while on drug that decreased to <480 msec following withdrawal of drug;

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C1706256
UMLS CUI [1,3]
C0577807
UMLS CUI [1,4]
C0743284
A change in uncorrected QT interval of at least 100 msec (either from the pre-exposure to the during-exposure ECG or from the during-exposure to the post-exposure ECG) with an uncorrected QT interval >480 msec while on drug; or
Descrizione

A change in uncorrected QT interval of at least 100 msec (either from the pre-exposure to the during-exposure ECG or from the during-exposure to the post-exposure ECG) with an uncorrected QT interval >480 msec while on drug; or

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C1706256
UMLS CUI [1,3]
C0577807
UMLS CUI [1,4]
C0743284
An episode of ECG-documented TdP with a subsequent ECG with no evidence of TdP following withdrawal of drug.
Descrizione

An episode of ECG-documented TdP with a subsequent ECG with no evidence of TdP following withdrawal of drug.

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C1706256
UMLS CUI [1,3]
C0743284
UMLS CUI [1,4]
C1623258
UMLS CUI [1,5]
C0040479
UMLS CUI [2,1]
C1512693
UMLS CUI [2,2]
C1706256
UMLS CUI [2,3]
C1395815
UMLS CUI [2,4]
C1623258
UMLS CUI [2,5]
C1298908
UMLS CUI [2,6]
C0040479
*Exclusion criteria for Cases:*
Descrizione

*Exclusion criteria for Cases:*

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [1,2]
C1706256
Potassium level ≤3 mmol at onset of event (1 mEq = 1 mmol);
Descrizione

Potassium level ≤3 mmol at onset of event (1 mEq = 1 mmol);

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [1,2]
C1706256
UMLS CUI [1,3]
C0302353
Subarachnoid hemorrhage at onset of event;
Descrizione

Subarachnoid hemorrhage at onset of event;

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [1,2]
C1706256
UMLS CUI [1,3]
C0038525
UMLS CUI [1,4]
C0574845
Cardiac bypass <24 hours before onset of event;
Descrizione

Cardiac bypass <24 hours before onset of event;

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [1,2]
C1706256
UMLS CUI [1,3]
C0010055
UMLS CUI [1,4]
C0332152
UMLS CUI [1,5]
C0574845
Hospital admission diagnosis of hypothermia at time of event;
Descrizione

Hospital admission diagnosis of hypothermia at time of event;

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [1,2]
C1706256
UMLS CUI [1,3]
C0184666
UMLS CUI [1,4]
C0020672
UMLS CUI [1,5]
C4759356
Diagnosed with congenital LQTS prior to onset of event;
Descrizione

Diagnosed with congenital LQTS prior to onset of event;

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [1,2]
C1706256
UMLS CUI [1,3]
C1141890
UMLS CUI [1,4]
C0332152
UMLS CUI [1,5]
C0332162
UMLS CUI [1,6]
C0441471
Currently leukopenic (WBC<1000 cells/mL);
Descrizione

Currently leukopenic (WBC<1000 cells/mL);

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [1,2]
C1706256
UMLS CUI [1,3]
C0023530
Has had a non-autologous bone marrow transplant at anytime in the past
Descrizione

Has had a non-autologous bone marrow transplant at anytime in the past

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [1,2]
C1706256
UMLS CUI [1,3]
C4039784
*Inclusion criteria for Control Group A:*
Descrizione

*Inclusion criteria for Control Group A:*

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0009932
18 years of age or older;
Descrizione

18 years of age or older;

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0009932
UMLS CUI [1,3]
C0001779
New start on QT-prolonging antiarrhythmic drug(s); and
Descrizione

New start on QT-prolonging antiarrhythmic drug(s); and

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0009932
UMLS CUI [1,3]
C0151878
UMLS CUI [1,4]
C0003195
Hasn't received a blood transfusion in the past 4 months
Descrizione

Hasn't received a blood transfusion in the past 4 months

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0009932
UMLS CUI [1,3]
C1298908
UMLS CUI [1,4]
C0005841
*Inclusion criteria for Control Group B:*
Descrizione

*Inclusion criteria for Control Group B:*

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0009932
Healthy subjects between the ages of 18 and 40;
Descrizione

Healthy subjects between the ages of 18 and 40;

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0009932
UMLS CUI [1,3]
C0001779
Not on any regular medication;
Descrizione

Not on any regular medication;

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0009932
UMLS CUI [1,3]
C1298908
UMLS CUI [1,4]
C0455633
Non-smoker; and
Descrizione

Non-smoker; and

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0009932
UMLS CUI [1,3]
C0337672
Normal ECG
Descrizione

Normal ECG

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0009932
UMLS CUI [1,3]
C0522054
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Similar models

Eligibility Criteria

4 moduli
Name
genere
Description | Question | Decode (Coded Value)
Tipo di dati
Alias
Item Group
Inclusion and exclusion criteria
*Inclusion criteria for Cases:* Cases were defined as those subjects ≥18 years of age at the time of an incident of drug-induced LQTS and/or TdP who had one of the following:
Item
*Inclusion criteria for Cases:* Cases were defined as those subjects ≥18 years of age at the time of an incident of drug-induced LQTS and/or TdP who had one of the following:
boolean
C1512693 (UMLS CUI [1,1])
C1706256 (UMLS CUI [1,2])
C0001779 (UMLS CUI [1,3])
C0023976 (UMLS CUI [1,4])
C0040479 (UMLS CUI [1,5])
An uncorrected QT interval ≥600 msec while on drug that decreased to <480 msec following withdrawal of drug;
Item
An uncorrected QT interval ≥600 msec while on drug that decreased to <480 msec following withdrawal of drug;
boolean
C1512693 (UMLS CUI [1,1])
C1706256 (UMLS CUI [1,2])
C0577807 (UMLS CUI [1,3])
C0743284 (UMLS CUI [1,4])
A change in uncorrected QT interval of at least 100 msec (either from the pre-exposure to the during-exposure ECG or from the during-exposure to the post-exposure ECG) with an uncorrected QT interval >480 msec while on drug; or
Item
A change in uncorrected QT interval of at least 100 msec (either from the pre-exposure to the during-exposure ECG or from the during-exposure to the post-exposure ECG) with an uncorrected QT interval >480 msec while on drug; or
boolean
C1512693 (UMLS CUI [1,1])
C1706256 (UMLS CUI [1,2])
C0577807 (UMLS CUI [1,3])
C0743284 (UMLS CUI [1,4])
An episode of ECG-documented TdP with a subsequent ECG with no evidence of TdP following withdrawal of drug.
Item
An episode of ECG-documented TdP with a subsequent ECG with no evidence of TdP following withdrawal of drug.
boolean
C1512693 (UMLS CUI [1,1])
C1706256 (UMLS CUI [1,2])
C0743284 (UMLS CUI [1,3])
C1623258 (UMLS CUI [1,4])
C0040479 (UMLS CUI [1,5])
C1512693 (UMLS CUI [2,1])
C1706256 (UMLS CUI [2,2])
C1395815 (UMLS CUI [2,3])
C1623258 (UMLS CUI [2,4])
C1298908 (UMLS CUI [2,5])
C0040479 (UMLS CUI [2,6])
*Exclusion criteria for Cases:*
Item
*Exclusion criteria for Cases:*
boolean
C0680251 (UMLS CUI [1,1])
C1706256 (UMLS CUI [1,2])
Potassium level ≤3 mmol at onset of event (1 mEq = 1 mmol);
Item
Potassium level ≤3 mmol at onset of event (1 mEq = 1 mmol);
boolean
C0680251 (UMLS CUI [1,1])
C1706256 (UMLS CUI [1,2])
C0302353 (UMLS CUI [1,3])
Subarachnoid hemorrhage at onset of event;
Item
Subarachnoid hemorrhage at onset of event;
boolean
C0680251 (UMLS CUI [1,1])
C1706256 (UMLS CUI [1,2])
C0038525 (UMLS CUI [1,3])
C0574845 (UMLS CUI [1,4])
Cardiac bypass <24 hours before onset of event;
Item
Cardiac bypass <24 hours before onset of event;
boolean
C0680251 (UMLS CUI [1,1])
C1706256 (UMLS CUI [1,2])
C0010055 (UMLS CUI [1,3])
C0332152 (UMLS CUI [1,4])
C0574845 (UMLS CUI [1,5])
Hospital admission diagnosis of hypothermia at time of event;
Item
Hospital admission diagnosis of hypothermia at time of event;
boolean
C0680251 (UMLS CUI [1,1])
C1706256 (UMLS CUI [1,2])
C0184666 (UMLS CUI [1,3])
C0020672 (UMLS CUI [1,4])
C4759356 (UMLS CUI [1,5])
Diagnosed with congenital LQTS prior to onset of event;
Item
Diagnosed with congenital LQTS prior to onset of event;
boolean
C0680251 (UMLS CUI [1,1])
C1706256 (UMLS CUI [1,2])
C1141890 (UMLS CUI [1,3])
C0332152 (UMLS CUI [1,4])
C0332162 (UMLS CUI [1,5])
C0441471 (UMLS CUI [1,6])
Currently leukopenic (WBC<1000 cells/mL);
Item
Currently leukopenic (WBC<1000 cells/mL);
boolean
C0680251 (UMLS CUI [1,1])
C1706256 (UMLS CUI [1,2])
C0023530 (UMLS CUI [1,3])
Has had a non-autologous bone marrow transplant at anytime in the past
Item
Has had a non-autologous bone marrow transplant at anytime in the past
boolean
C0680251 (UMLS CUI [1,1])
C1706256 (UMLS CUI [1,2])
C4039784 (UMLS CUI [1,3])
*Inclusion criteria for Control Group A:*
Item
*Inclusion criteria for Control Group A:*
boolean
C1512693 (UMLS CUI [1,1])
C0009932 (UMLS CUI [1,2])
18 years of age or older;
Item
18 years of age or older;
boolean
C1512693 (UMLS CUI [1,1])
C0009932 (UMLS CUI [1,2])
C0001779 (UMLS CUI [1,3])
New start on QT-prolonging antiarrhythmic drug(s); and
Item
New start on QT-prolonging antiarrhythmic drug(s); and
boolean
C1512693 (UMLS CUI [1,1])
C0009932 (UMLS CUI [1,2])
C0151878 (UMLS CUI [1,3])
C0003195 (UMLS CUI [1,4])
Hasn't received a blood transfusion in the past 4 months
Item
Hasn't received a blood transfusion in the past 4 months
boolean
C1512693 (UMLS CUI [1,1])
C0009932 (UMLS CUI [1,2])
C1298908 (UMLS CUI [1,3])
C0005841 (UMLS CUI [1,4])
*Inclusion criteria for Control Group B:*
Item
*Inclusion criteria for Control Group B:*
boolean
C1512693 (UMLS CUI [1,1])
C0009932 (UMLS CUI [1,2])
Healthy subjects between the ages of 18 and 40;
Item
Healthy subjects between the ages of 18 and 40;
boolean
C1512693 (UMLS CUI [1,1])
C0009932 (UMLS CUI [1,2])
C0001779 (UMLS CUI [1,3])
Not on any regular medication;
Item
Not on any regular medication;
boolean
C1512693 (UMLS CUI [1,1])
C0009932 (UMLS CUI [1,2])
C1298908 (UMLS CUI [1,3])
C0455633 (UMLS CUI [1,4])
Non-smoker; and
Item
Non-smoker; and
boolean
C1512693 (UMLS CUI [1,1])
C0009932 (UMLS CUI [1,2])
C0337672 (UMLS CUI [1,3])
Normal ECG
Item
Normal ECG
boolean
C1512693 (UMLS CUI [1,1])
C0009932 (UMLS CUI [1,2])
C0522054 (UMLS CUI [1,3])
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