ID

45396

Description

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).

Link

dbGaP study = phs000617

Keywords

Versions (1)
  1. 11/15/22 11/15/22 - Simon Heim
Copyright Holder

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

Uploaded on

November 15, 2022

DOI

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License

Creative Commons BY 4.0
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dbGaP phs000617 KCNE1Polymorphism as Possible Modulator of Drug-Induced TdP

English

Eligibility Criteria

5 forms  
Inclusion and exclusion criteria
Description

Inclusion and exclusion criteria

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0680251
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:
Description

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:

Data type

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]
C0458082
UMLS CUI [1,6]
C0040479
An uncorrected QT interval ≥600 msec while on drug that decreased to <480 msec following withdrawal of drug;
Description

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

Data type

boolean

Alias
UMLS CUI [1,1]
C0242510
UMLS CUI [1,2]
C0151878
UMLS CUI [2,1]
C1287082
UMLS CUI [2,2]
C1395815
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
Description

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

Data type

boolean

Alias
UMLS CUI [1,1]
C1287082
UMLS CUI [1,2]
C0443172
UMLS CUI [1,3]
C0332152
UMLS CUI [1,4]
C0347984
UMLS CUI [1,5]
C0457083
UMLS CUI [2,1]
C1287082
UMLS CUI [2,2]
C0443172
UMLS CUI [2,3]
C0347984
UMLS CUI [2,4]
C0687676
UMLS CUI [2,5]
C0457083
An episode of ECG-documented TdP with a subsequent ECG with no evidence of TdP following withdrawal of drug.
Description

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

Data type

boolean

Alias
UMLS CUI [1,1]
C1623258
UMLS CUI [1,2]
C0040479
UMLS CUI [2,1]
C2349954
UMLS CUI [2,2]
C0332125
UMLS CUI [2,3]
C0040479
Exclusion criteria for Cases:
Description

Exclusion criteria for Cases:

Data type

boolean

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

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

Data type

boolean

Alias
UMLS CUI [1,1]
C0302353
UMLS CUI [1,2]
C0332162
UMLS CUI [1,3]
C0441471
Subarachnoid hemorrhage at onset of event;
Description

Subarachnoid hemorrhage at onset of event;

Data type

boolean

Alias
UMLS CUI [1,1]
C0038525
UMLS CUI [1,2]
C0332162
UMLS CUI [1,3]
C0441471
Cardiac bypass <24 hours before onset of event;
Description

Cardiac bypass <24 hours before onset of event;

Data type

boolean

Alias
UMLS CUI [1,1]
C0010055
UMLS CUI [1,2]
C4035156
UMLS CUI [1,3]
C0332162
UMLS CUI [1,4]
C0441471
Hospital admission diagnosis of hypothermia at time of event;
Description

Hospital admission diagnosis of hypothermia at time of event;

Data type

boolean

Alias
UMLS CUI [1,1]
C0184666
UMLS CUI [1,2]
C0020672
UMLS CUI [1,3]
C0332162
UMLS CUI [1,4]
C0441471
Diagnosed with congenital LQTS prior to onset of event;
Description

Diagnosed with congenital LQTS prior to onset of event;

Data type

boolean

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

Currently leukopenic (WBC<1000 cells/mL);

Data type

boolean

Alias
UMLS CUI [1,1]
C0521116
UMLS CUI [1,2]
C0023530
Has had a non-autologous bone marrow transplant at anytime in the past.
Description

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

Data type

boolean

Alias
UMLS CUI [1,1]
C0005961
UMLS CUI [1,2]
C1444637
Inclusion criteria for Controls:
Description

Inclusion criteria for Controls:

Data type

boolean

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

18 years of age or older;

Data type

boolean

Alias
UMLS CUI [1,1]
C0001779
New start on QT-prolonging antiarrhythmic drug(s);
Description

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

Data type

boolean

Alias
UMLS CUI [1,1]
C0205314
UMLS CUI [1,2]
C0087111
UMLS CUI [1,3]
C0003195
UMLS CUI [1,4]
C0151878
Has not received a blood transfusion in the past 4 months.
Description

Has not received a blood transfusion in the past 4 months.

Data type

boolean

Alias
UMLS CUI [1,1]
C1879316
UMLS CUI [1,2]
C3845783
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Similar models

Eligibility Criteria

5 forms
Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
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])
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])
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])
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])
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
C0302353 (UMLS CUI [1,1])
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])
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])
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])
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])
Currently leukopenic (WBC<1000 cells/mL);
Item
Currently leukopenic (WBC<1000 cells/mL);
boolean
C0521116 (UMLS CUI [1,1])
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])
Inclusion criteria for Controls:
Item
Inclusion criteria for Controls:
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
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])
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])
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