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Falhas:
ID
45396
Descrição
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=phs000617 The goal of this study was to search for genetic variants that could be responsible for modifying the risk of drug-induced long QT syndrome (diLQTS). diLQTS is a relatively common adverse drug event and has been a leading cause for drug relabeling and withdrawal from the market. Our hypothesis, that variants in genes which regulate electrical properties in the heart modify the risk of diLQTS, was tested by genotyping patients of European descent at 1424 single nucleotide polymorphisms (SNPs) in 18 candidate genes. We found that the SNP KCNE1 D85N was highly predictive of diLQTS with an odds ratio of 9.0 (95% confidence interval: 3.5-22.9).
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Versões (1)
- 2022-11-15 2022-11-15 - Simon Heim
Titular dos direitos
Dan Roden, MD, Vanderbilt University Medical Center, Nashville, TN, USA
Transferido a
15 november 2022
DOI
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Licença
Creative Commons BY 4.0
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dbGaP phs000617 KCNE1Polymorphism as Possible Modulator of Drug-Induced TdP
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, and affection status of participants with or without QT syndrome and involved in the "PGRN-Leducq: Identification of the KCNE1 D85N Polymorphism as a Possible Modulator of Drug-Induced Torsades de Pointes" project.
- Subject ID, sample ID, and sample use variable obtained from participants with or without QT syndrome and involved in the "PGRN-Leducq: Identification of the KCNE1 D85N Polymorphism as a Possible Modulator of Drug-Induced Torsades de Pointes" project.
- Subject ID, case or control, gender, ethnicity, age of participant at time of drug challenge, history of hypertension, heart failure, atrial fibrillation, ejection fraction, serum creatinine level, and serum potassium of participants with or without QT syndrome and involved in the "PGRN-Leducq: Identification of the KCNE1 D85N Polymorphism as a Possible Modulator of Drug-Induced Torsades de Pointes" project.
- Sample ID, body site where sample was collected, analyte type, and tumor status of sample obtained from participants with or without QT syndrome and involved in the "PGRN-Leducq: Identification of the KCNE1 D85N Polymorphism as a Possible Modulator of Drug-Induced Torsades de Pointes" project.
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Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, and affection status of participants with or without QT syndrome and involved in the "PGRN-Leducq: Identification of the KCNE1 D85N Polymorphism as a Possible Modulator of Drug-Induced Torsades de Pointes" project.
- Subject ID, sample ID, and sample use variable obtained from participants with or without QT syndrome and involved in the "PGRN-Leducq: Identification of the KCNE1 D85N Polymorphism as a Possible Modulator of Drug-Induced Torsades de Pointes" project.
- Subject ID, case or control, gender, ethnicity, age of participant at time of drug challenge, history of hypertension, heart failure, atrial fibrillation, ejection fraction, serum creatinine level, and serum potassium of participants with or without QT syndrome and involved in the "PGRN-Leducq: Identification of the KCNE1 D85N Polymorphism as a Possible Modulator of Drug-Induced Torsades de Pointes" project.
- Sample ID, body site where sample was collected, analyte type, and tumor status of sample obtained from participants with or without QT syndrome and involved in the "PGRN-Leducq: Identification of the KCNE1 D85N Polymorphism as a Possible Modulator of Drug-Induced Torsades de Pointes" project.
Name
Tipo
Description | Question | Decode (Coded Value)
Tipo de dados
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
C0680251 (UMLS CUI [1,2])
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])
C0458082 (UMLS CUI [1,5])
C0040479 (UMLS CUI [1,6])
C1706256 (UMLS CUI [1,2])
C0001779 (UMLS CUI [1,3])
C0023976 (UMLS CUI [1,4])
C0458082 (UMLS CUI [1,5])
C0040479 (UMLS CUI [1,6])
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
C0242510 (UMLS CUI [1,1])
C0151878 (UMLS CUI [1,2])
C1287082 (UMLS CUI [2,1])
C1395815 (UMLS CUI [2,2])
C0151878 (UMLS CUI [1,2])
C1287082 (UMLS CUI [2,1])
C1395815 (UMLS CUI [2,2])
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
C1287082 (UMLS CUI [1,1])
C0443172 (UMLS CUI [1,2])
C0332152 (UMLS CUI [1,3])
C0347984 (UMLS CUI [1,4])
C0457083 (UMLS CUI [1,5])
C1287082 (UMLS CUI [2,1])
C0443172 (UMLS CUI [2,2])
C0347984 (UMLS CUI [2,3])
C0687676 (UMLS CUI [2,4])
C0457083 (UMLS CUI [2,5])
C0443172 (UMLS CUI [1,2])
C0332152 (UMLS CUI [1,3])
C0347984 (UMLS CUI [1,4])
C0457083 (UMLS CUI [1,5])
C1287082 (UMLS CUI [2,1])
C0443172 (UMLS CUI [2,2])
C0347984 (UMLS CUI [2,3])
C0687676 (UMLS CUI [2,4])
C0457083 (UMLS CUI [2,5])
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
C1623258 (UMLS CUI [1,1])
C0040479 (UMLS CUI [1,2])
C2349954 (UMLS CUI [2,1])
C0332125 (UMLS CUI [2,2])
C0040479 (UMLS CUI [2,3])
C0040479 (UMLS CUI [1,2])
C2349954 (UMLS CUI [2,1])
C0332125 (UMLS CUI [2,2])
C0040479 (UMLS CUI [2,3])
Exclusion criteria for Cases:
Item
Exclusion criteria for Cases:
boolean
C0680251 (UMLS CUI [1,1])
C1706256 (UMLS CUI [1,2])
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
C0302353 (UMLS CUI [1,1])
C0332162 (UMLS CUI [1,2])
C0441471 (UMLS CUI [1,3])
C0332162 (UMLS CUI [1,2])
C0441471 (UMLS CUI [1,3])
Subarachnoid hemorrhage at onset of event;
Item
Subarachnoid hemorrhage at onset of event;
boolean
C0038525 (UMLS CUI [1,1])
C0332162 (UMLS CUI [1,2])
C0441471 (UMLS CUI [1,3])
C0332162 (UMLS CUI [1,2])
C0441471 (UMLS CUI [1,3])
Cardiac bypass <24 hours before onset of event;
Item
Cardiac bypass <24 hours before onset of event;
boolean
C0010055 (UMLS CUI [1,1])
C4035156 (UMLS CUI [1,2])
C0332162 (UMLS CUI [1,3])
C0441471 (UMLS CUI [1,4])
C4035156 (UMLS CUI [1,2])
C0332162 (UMLS CUI [1,3])
C0441471 (UMLS CUI [1,4])
Hospital admission diagnosis of hypothermia at time of event;
Item
Hospital admission diagnosis of hypothermia at time of event;
boolean
C0184666 (UMLS CUI [1,1])
C0020672 (UMLS CUI [1,2])
C0332162 (UMLS CUI [1,3])
C0441471 (UMLS CUI [1,4])
C0020672 (UMLS CUI [1,2])
C0332162 (UMLS CUI [1,3])
C0441471 (UMLS CUI [1,4])
Diagnosed with congenital LQTS prior to onset of event;
Item
Diagnosed with congenital LQTS prior to onset of event;
boolean
C1141890 (UMLS CUI [1,1])
C0332152 (UMLS CUI [1,2])
C0332162 (UMLS CUI [1,3])
C0441471 (UMLS CUI [1,4])
C0332152 (UMLS CUI [1,2])
C0332162 (UMLS CUI [1,3])
C0441471 (UMLS CUI [1,4])
Currently leukopenic (WBC<1000 cells/mL);
Item
Currently leukopenic (WBC<1000 cells/mL);
boolean
C0521116 (UMLS CUI [1,1])
C0023530 (UMLS CUI [1,2])
C0023530 (UMLS CUI [1,2])
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
C0005961 (UMLS CUI [1,1])
C1444637 (UMLS CUI [1,2])
C1444637 (UMLS CUI [1,2])
Inclusion criteria for Controls:
Item
Inclusion criteria for Controls:
boolean
C1512693 (UMLS CUI [1,1])
C0009932 (UMLS CUI [1,2])
C0009932 (UMLS CUI [1,2])
18 years of age or older;
Item
18 years of age or older;
boolean
C0001779 (UMLS CUI [1,1])
New start on QT-prolonging antiarrhythmic drug(s);
Item
New start on QT-prolonging antiarrhythmic drug(s);
boolean
C0205314 (UMLS CUI [1,1])
C0087111 (UMLS CUI [1,2])
C0003195 (UMLS CUI [1,3])
C0151878 (UMLS CUI [1,4])
C0087111 (UMLS CUI [1,2])
C0003195 (UMLS CUI [1,3])
C0151878 (UMLS CUI [1,4])
Has not received a blood transfusion in the past 4 months.
Item
Has not received a blood transfusion in the past 4 months.
boolean
C1879316 (UMLS CUI [1,1])
C3845783 (UMLS CUI [1,2])
C3845783 (UMLS CUI [1,2])