0 Ratings
ID

45692

Description

Principal Investigator: David W. Haas, MD, Vanderbilt University School of Medicine, Nashville, Tennessee, USA MeSH: Central Nervous System Diseases,Dizziness,Insomnia,Hallucinations,Headache https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001253 This is an evaluation of genetic associations with efavirenz (EFV) discontinuation for central nervous system (CNS) symptoms within 12 months of treatment. Patients were treated at an HIV primary care clinic in Nashville TN from 1998 to 2012. Previously known SNPs in *CYP2B6* and *CYP2A6* were used to define metabolizer genotypes (extensive, intermediate, slow metabolizer). Over 500,000 SNPs from genome-wide genotyping were used to define MDS (Multidimensional Scaling) coordinates to account for population stratification. Patients were defined as *cases* if they discontinued EFV for CNS symptoms within 12 months, otherwise they were defined as *controls* if they did not stop treatment. Among 563 evaluable participants, the hazard ratio for EFV discontinuation for CNS symptoms was 4.9 (95% C.I. 1.9 TO 12.4, p=0.001) in slow metabolizers compared to extensive metabolizers. This association was very significant in Whites 6.5 (95% CI: 2.3 to 18.8; p = 0.001), but not in Blacks 2.6 (95% C.I. 0.5 to 14.1; p = 0.27). The reason for this difference by race is not clear and warrants further investigation.

Link

dbGaP study = phs001253

Keywords

Versions (1)
  1. 5/8/23 5/8/23 - Simon Heim
Copyright Holder

David W. Haas, MD, Vanderbilt University School of Medicine, Nashville, Tennessee, USA

Uploaded on

May 8, 2023

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License

Creative Commons BY 4.0
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    dbGaP phs001253 Pharmacogenetics of Efavirenz Discontinuation for Reported CNS Symptoms

    English

    The dataset provides information about the length of efavirenz treatment (patients who discontinued treatment were 'cases', those who did not interupt medication intake were 'controls') that may be correlated to genotype data indicating patients to be slow, intermediate or extensive metabolizers of the drug.

    6 forms  
    pht006165
    Description

    pht006165

    Alias
    UMLS CUI [1,1]
    C3846158
    De-identified Subject ID
    Description

    SUBJECT_ID

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C4684638
    UMLS CUI [1,2]
    C2348585
    Discontinuation of EFV for CNS side effects
    Description

    efv_dc_cns_symptoms

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C0457454
    UMLS CUI [1,2]
    C0674428
    UMLS CUI [1,3]
    C0740760
    UMLS CUI [1,4]
    C0041755
    Validation Causes of EFV Discontinuation
    Description

    dc_cause_final

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C0457454
    UMLS CUI [1,2]
    C0674428
    UMLS CUI [1,3]
    C1519941
    Genetic ancestry defined race from MDS plots
    Description

    racegeno

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C0034510
    UMLS CUI [1,2]
    C0681930
    UMLS CUI [1,3]
    C5447420
    UMLS CUI [1,4]
    C0314603
    Total days of EFV treatment
    Description

    fup_efv_total_day

    Data type

    text

    Measurement units
    • Days
    Alias
    UMLS CUI [1,1]
    C0674428
    UMLS CUI [1,2]
    C5556829
    Days
    Gender of participant
    Description

    sex

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C0079399
    Permanent discontinuation of EFV
    Description

    efv_perm_dc

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C0457454
    UMLS CUI [1,2]
    C0674428
    Age of participant at the last clinic visit
    Description

    age_last_visit

    Data type

    text

    Measurement units
    • Years
    Alias
    UMLS CUI [1,1]
    C0001779
    UMLS CUI [1,2]
    C5204632
    Years
    Year of the last clinic visit
    Description

    yr_last_visit

    Data type

    text

    Measurement units
    • Years
    Alias
    UMLS CUI [1,1]
    C5204632
    UMLS CUI [1,2]
    C0439234
    Years
    Age of participant at ART initiation
    Description

    age_at_art_start

    Data type

    text

    Measurement units
    • Years
    Alias
    UMLS CUI [1,1]
    C0001779
    UMLS CUI [1,2]
    C1963724
    UMLS CUI [1,3]
    C1704686
    Years
    Number of different ART regimens
    Description

    regimen_nbr

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C1963724
    UMLS CUI [1,2]
    C0449788
    UMLS CUI [1,3]
    C1273869
    Total days of ART treatment
    Description

    fup_art_total_day

    Data type

    text

    Measurement units
    • Days
    Alias
    UMLS CUI [1,1]
    C1963724
    UMLS CUI [1,2]
    C0449788
    UMLS CUI [1,3]
    C0439228
    Days
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    Similar models

    The dataset provides information about the length of efavirenz treatment (patients who discontinued treatment were 'cases', those who did not interupt medication intake were 'controls') that may be correlated to genotype data indicating patients to be slow, intermediate or extensive metabolizers of the drug.

    6 forms
    Name
    Type
    Description | Question | Decode (Coded Value)
    Data type
    Alias
    Item Group
    pht006165
    C3846158 (UMLS CUI [1,1])
    SUBJECT_ID
    Item
    De-identified Subject ID
    string
    C4684638 (UMLS CUI [1,1])
    C2348585 (UMLS CUI [1,2])
    efv_dc_cns_symptoms
    Item
    Discontinuation of EFV for CNS side effects
    text
    C0457454 (UMLS CUI [1,1])
    C0674428 (UMLS CUI [1,2])
    C0740760 (UMLS CUI [1,3])
    C0041755 (UMLS CUI [1,4])
    dc_cause_final
    Item
    Validation Causes of EFV Discontinuation
    text
    C0457454 (UMLS CUI [1,1])
    C0674428 (UMLS CUI [1,2])
    C1519941 (UMLS CUI [1,3])
    racegeno
    Item
    Genetic ancestry defined race from MDS plots
    text
    C0034510 (UMLS CUI [1,1])
    C0681930 (UMLS CUI [1,2])
    C5447420 (UMLS CUI [1,3])
    C0314603 (UMLS CUI [1,4])
    fup_efv_total_day
    Item
    Total days of EFV treatment
    text
    C0674428 (UMLS CUI [1,1])
    C5556829 (UMLS CUI [1,2])
    sex
    Item
    Gender of participant
    text
    C0079399 (UMLS CUI [1,1])
    efv_perm_dc
    Item
    Permanent discontinuation of EFV
    text
    C0457454 (UMLS CUI [1,1])
    C0674428 (UMLS CUI [1,2])
    age_last_visit
    Item
    Age of participant at the last clinic visit
    text
    C0001779 (UMLS CUI [1,1])
    C5204632 (UMLS CUI [1,2])
    yr_last_visit
    Item
    Year of the last clinic visit
    text
    C5204632 (UMLS CUI [1,1])
    C0439234 (UMLS CUI [1,2])
    age_at_art_start
    Item
    Age of participant at ART initiation
    text
    C0001779 (UMLS CUI [1,1])
    C1963724 (UMLS CUI [1,2])
    C1704686 (UMLS CUI [1,3])
    regimen_nbr
    Item
    Number of different ART regimens
    text
    C1963724 (UMLS CUI [1,1])
    C0449788 (UMLS CUI [1,2])
    C1273869 (UMLS CUI [1,3])
    fup_art_total_day
    Item
    Total days of ART treatment
    text
    C1963724 (UMLS CUI [1,1])
    C0449788 (UMLS CUI [1,2])
    C0439228 (UMLS CUI [1,3])
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