ID

45692

Descrizione

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.

collegamento

dbGaP study = phs001253

Keywords

  1. 08/05/23 08/05/23 - Simon Heim
Titolare del copyright

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

Caricato su

8 maggio 2023

DOI

Per favore, per richiedere un accesso.

Licenza

Creative Commons BY 4.0

Commenti del modello :

Puoi commentare il modello dati qui. Tramite i fumetti nei gruppi di articoli e articoli è possibile aggiungere commenti a quelli in modo specifico.

Commenti del gruppo di articoli per :

Commenti dell'articolo per :


Non ci sono commenti

Per scaricare i modelli di dati devi essere registrato. Per favore accesso o registrati GRATIS.

dbGaP phs001253 Pharmacogenetics of Efavirenz Discontinuation for Reported CNS Symptoms

The dataset provides molecular information on SNPs related to genes CYP2B6 and CYP2A6 to describe a metabolizer genotype (slow, intermediate, extensive). Please note that summaries of SNPs and MDS (Multidimensional Scaling) coordinates are not displayed on public pages, but are available through authorized access.

pht006166
Descrizione

pht006166

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

SUBJECT_ID

Tipo di dati

string

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C1299222
Genetic ancestry defined from MDS plots.
Descrizione

racegeno

Tipo di dati

text

Alias
UMLS CUI [1,1]
C5447420
UMLS CUI [1,2]
C0314603
UMLS CUI [1,3]
C0681930
SNP in CYP2B6 - rs4803419
Descrizione

rs4803419

Tipo di dati

string

Alias
UMLS CUI [1,1]
C0752046
UMLS CUI [1,2]
C1382176
UMLS CUI [1,3]
C3846158
SNP in CYP2B6 - rs3745274
Descrizione

rs3745274

Tipo di dati

string

Alias
UMLS CUI [1,1]
C0752046
UMLS CUI [1,2]
C1382176
UMLS CUI [1,3]
C3846158
SNP in CYP2B6 - rs28399499
Descrizione

rs28399499

Tipo di dati

string

Alias
UMLS CUI [1,1]
C0752046
UMLS CUI [1,2]
C1382176
UMLS CUI [1,3]
C3846158
SNP in CYP2A6 - rs28399433
Descrizione

rs28399433

Tipo di dati

string

Alias
UMLS CUI [1,1]
C0752046
UMLS CUI [1,2]
C1382176
UMLS CUI [1,3]
C3846158
Defined haplotypes based on combination of CYPAB6 and CYP2A6 SNPs.
Descrizione

haplotype

Tipo di dati

text

Alias
UMLS CUI [1,1]
C0018591
UMLS CUI [1,2]
C0752046
UMLS CUI [1,3]
C1382176
Metabolizer status based on haplotypes
Descrizione

metabolizer

Tipo di dati

text

Alias
UMLS CUI [1,1]
C0018591
UMLS CUI [1,2]
C0025519
UMLS CUI [1,3]
C0449438
MDS coordinates generated from GWAS genotype - C1
Descrizione

C1

Tipo di dati

text

Alias
UMLS CUI [1,1]
C0681930
UMLS CUI [1,2]
C2350277
UMLS CUI [1,3]
C3846158
MDS coordinates generated from GWAS genotype - C2
Descrizione

C2

Tipo di dati

text

Alias
UMLS CUI [1,1]
C0681930
UMLS CUI [1,2]
C2350277
UMLS CUI [1,3]
C3846158
MDS coordinates generated from GWAS genotype - C3
Descrizione

C3

Tipo di dati

text

Alias
UMLS CUI [1,1]
C0681930
UMLS CUI [1,2]
C2350277
UMLS CUI [1,3]
C3846158
MDS coordinates generated from GWAS genotype - C4
Descrizione

C4

Tipo di dati

text

Alias
UMLS CUI [1,1]
C0681930
UMLS CUI [1,2]
C2350277
UMLS CUI [1,3]
C3846158

Similar models

The dataset provides molecular information on SNPs related to genes CYP2B6 and CYP2A6 to describe a metabolizer genotype (slow, intermediate, extensive). Please note that summaries of SNPs and MDS (Multidimensional Scaling) coordinates are not displayed on public pages, but are available through authorized access.

Name
genere
Description | Question | Decode (Coded Value)
Tipo di dati
Alias
Item Group
pht006166
C3846158 (UMLS CUI [1,1])
SUBJECT_ID
Item
De-identified Subject ID
string
C4684638 (UMLS CUI [1,1])
C1299222 (UMLS CUI [1,2])
racegeno
Item
Genetic ancestry defined from MDS plots.
text
C5447420 (UMLS CUI [1,1])
C0314603 (UMLS CUI [1,2])
C0681930 (UMLS CUI [1,3])
rs4803419
Item
SNP in CYP2B6 - rs4803419
string
C0752046 (UMLS CUI [1,1])
C1382176 (UMLS CUI [1,2])
C3846158 (UMLS CUI [1,3])
rs3745274
Item
SNP in CYP2B6 - rs3745274
string
C0752046 (UMLS CUI [1,1])
C1382176 (UMLS CUI [1,2])
C3846158 (UMLS CUI [1,3])
rs28399499
Item
SNP in CYP2B6 - rs28399499
string
C0752046 (UMLS CUI [1,1])
C1382176 (UMLS CUI [1,2])
C3846158 (UMLS CUI [1,3])
rs28399433
Item
SNP in CYP2A6 - rs28399433
string
C0752046 (UMLS CUI [1,1])
C1382176 (UMLS CUI [1,2])
C3846158 (UMLS CUI [1,3])
haplotype
Item
Defined haplotypes based on combination of CYPAB6 and CYP2A6 SNPs.
text
C0018591 (UMLS CUI [1,1])
C0752046 (UMLS CUI [1,2])
C1382176 (UMLS CUI [1,3])
metabolizer
Item
Metabolizer status based on haplotypes
text
C0018591 (UMLS CUI [1,1])
C0025519 (UMLS CUI [1,2])
C0449438 (UMLS CUI [1,3])
C1
Item
MDS coordinates generated from GWAS genotype - C1
text
C0681930 (UMLS CUI [1,1])
C2350277 (UMLS CUI [1,2])
C3846158 (UMLS CUI [1,3])
C2
Item
MDS coordinates generated from GWAS genotype - C2
text
C0681930 (UMLS CUI [1,1])
C2350277 (UMLS CUI [1,2])
C3846158 (UMLS CUI [1,3])
C3
Item
MDS coordinates generated from GWAS genotype - C3
text
C0681930 (UMLS CUI [1,1])
C2350277 (UMLS CUI [1,2])
C3846158 (UMLS CUI [1,3])
C4
Item
MDS coordinates generated from GWAS genotype - C4
text
C0681930 (UMLS CUI [1,1])
C2350277 (UMLS CUI [1,2])
C3846158 (UMLS CUI [1,3])

Si prega di utilizzare questo modulo per feedback, domande e suggerimenti per miglioramenti.

I campi contrassegnati da * sono obbligatori.

Do you need help on how to use the search function? Please watch the corresponding tutorial video for more details and learn how to use the search function most efficiently.

Watch Tutorial