ID

45692

Beskrivning

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.

Länk

dbGaP study = phs001253

Nyckelord

  1. 2023-05-08 2023-05-08 - Simon Heim
Rättsinnehavare

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

Uppladdad den

8 maj 2023

DOI

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Licens

Creative Commons BY 4.0

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dbGaP phs001253 Pharmacogenetics of Efavirenz Discontinuation for Reported CNS Symptoms

Subject - Consent - Affection Status Information (All Cases)

pht006163
Beskrivning

pht006163

Alias
UMLS CUI [1,1]
C3846158
Subject ID
Beskrivning

SUBJECT_ID

Datatyp

string

Alias
UMLS CUI [1,1]
C2348585
Consent group as determined by DAC
Beskrivning

CONSENT

Datatyp

text

Alias
UMLS CUI [1,1]
C0021430
UMLS CUI [1,2]
C0441833
Source repository where subjects originate
Beskrivning

SUBJ_SOURCE

Datatyp

string

Alias
UMLS CUI [1,1]
C3847505
UMLS CUI [1,2]
C0449416
UMLS CUI [1,3]
C0681850
Subject ID used in the Source Repository
Beskrivning

SOURCE_SUBJID

Datatyp

string

Alias
UMLS CUI [1,1]
C2348585
UMLS CUI [1,2]
C3847505
UMLS CUI [1,3]
C0449416
Case - control status of the subject
Beskrivning

AFFECTION_STATUS

Datatyp

text

Alias
UMLS CUI [1,1]
C3274646

Similar models

Subject - Consent - Affection Status Information (All Cases)

Name
Typ
Description | Question | Decode (Coded Value)
Datatyp
Alias
Item Group
pht006163
C3846158 (UMLS CUI [1,1])
SUBJECT_ID
Item
Subject ID
string
C2348585 (UMLS CUI [1,1])
Item
Consent group as determined by DAC
text
C0021430 (UMLS CUI [1,1])
C0441833 (UMLS CUI [1,2])
Code List
Consent group as determined by DAC
CL Item
Disease-Specific (Human Immunodeficiency Virus, IRB) (DS-HIV-IRB) (1)
SUBJ_SOURCE
Item
Source repository where subjects originate
string
C3847505 (UMLS CUI [1,1])
C0449416 (UMLS CUI [1,2])
C0681850 (UMLS CUI [1,3])
SOURCE_SUBJID
Item
Subject ID used in the Source Repository
string
C2348585 (UMLS CUI [1,1])
C3847505 (UMLS CUI [1,2])
C0449416 (UMLS CUI [1,3])
Item
Case - control status of the subject
text
C3274646 (UMLS CUI [1,1])
Code List
Case - control status of the subject
CL Item
Control (0)
C3274648 (UMLS CUI [1,1])
CL Item
Case (1)
C3274647 (UMLS CUI [1,1])

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