ID

45692

Beschreibung

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

Stichworte

  1. 08.05.23 08.05.23 - Simon Heim
Rechteinhaber

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

Hochgeladen am

8. Mai 2023

DOI

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Lizenz

Creative Commons BY 4.0

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dbGaP phs001253 Pharmacogenetics of Efavirenz Discontinuation for Reported CNS Symptoms

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.

pht006165
Beschreibung

pht006165

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

SUBJECT_ID

Datentyp

string

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

efv_dc_cns_symptoms

Datentyp

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
Beschreibung

dc_cause_final

Datentyp

text

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

racegeno

Datentyp

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
Beschreibung

fup_efv_total_day

Datentyp

text

Maßeinheiten
  • Days
Alias
UMLS CUI [1,1]
C0674428
UMLS CUI [1,2]
C5556829
Days
Gender of participant
Beschreibung

sex

Datentyp

text

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

efv_perm_dc

Datentyp

text

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

age_last_visit

Datentyp

text

Maßeinheiten
  • Years
Alias
UMLS CUI [1,1]
C0001779
UMLS CUI [1,2]
C5204632
Years
Year of the last clinic visit
Beschreibung

yr_last_visit

Datentyp

text

Maßeinheiten
  • Years
Alias
UMLS CUI [1,1]
C5204632
UMLS CUI [1,2]
C0439234
Years
Age of participant at ART initiation
Beschreibung

age_at_art_start

Datentyp

text

Maßeinheiten
  • Years
Alias
UMLS CUI [1,1]
C0001779
UMLS CUI [1,2]
C1963724
UMLS CUI [1,3]
C1704686
Years
Number of different ART regimens
Beschreibung

regimen_nbr

Datentyp

text

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

fup_art_total_day

Datentyp

text

Maßeinheiten
  • Days
Alias
UMLS CUI [1,1]
C1963724
UMLS CUI [1,2]
C0449788
UMLS CUI [1,3]
C0439228
Days

Ähnliche Modelle

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.

Name
Typ
Description | Question | Decode (Coded Value)
Datentyp
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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