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.
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Versions (1)
- 2023-05-08 2023-05-08 - Simon Heim
Copyright Holder
David W. Haas, MD, Vanderbilt University School of Medicine, Nashville, Tennessee, USA
Uploaded on
8 maj 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
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.
- StudyEvent: SEV1
- Eligibility Criteria
- Subject - Consent - Affection Status Information (All Cases)
- Subject - Sample Mapping - Sample Use information
- 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.
- 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.
- Sample Attribute Information
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.
- StudyEvent: SEV1
- Eligibility Criteria
- Subject - Consent - Affection Status Information (All Cases)
- Subject - Sample Mapping - Sample Use information
- 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.
- 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.
- Sample Attribute Information
C2348585 (UMLS CUI [1,2])
C0674428 (UMLS CUI [1,2])
C0740760 (UMLS CUI [1,3])
C0041755 (UMLS CUI [1,4])
C0674428 (UMLS CUI [1,2])
C1519941 (UMLS CUI [1,3])
C0681930 (UMLS CUI [1,2])
C5447420 (UMLS CUI [1,3])
C0314603 (UMLS CUI [1,4])
C5556829 (UMLS CUI [1,2])
C0674428 (UMLS CUI [1,2])
C5204632 (UMLS CUI [1,2])
C0439234 (UMLS CUI [1,2])
C1963724 (UMLS CUI [1,2])
C1704686 (UMLS CUI [1,3])
C0449788 (UMLS CUI [1,2])
C1273869 (UMLS CUI [1,3])
C0449788 (UMLS CUI [1,2])
C0439228 (UMLS CUI [1,3])
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