ID
45768
Description
Principal Investigator: Lauren A. Trepanier, DVM, PhD, University of Wisconsin-Madison, School of Veterinary Medicine, Madison, WI, USA MeSH: Drug Hypersensitivity Syndrome https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001124 Hypersensitivity (HS) reactions to sulfonamide antibiotics occur uncommonly, but with potentially severe clinical manifestations. A familial predisposition to sulfonamide HS is suspected, but robust predictive genetic risk factors have yet to be identified. Strongly linked genetic polymorphisms have been used clinically as screening tests for other HS reactions prior to administration of high-risk drugs. The purpose of this study was to evaluate for genetic risk of sulfonamide HS in the immunocompetent population using genome-wide association. Ninety-one patients with symptoms after trimethoprim-sulfamethoxazole (TMP-SMX) attributable to "probable" drug HS based on medical record review and the Naranjo Adverse Drug Reaction Probability Scale, and 184 age- and sex-matched patients who tolerated a therapeutic course of TMP-SMX, were included in a genome-wide association study using both common and rare variant techniques. Additionally, two subgroups of HS patients with a more refined clinical phenotype (fever and rash; or fever, rash and eosinophilia) were evaluated separately. For the full dataset, no single nucleotide polymorphisms were suggestive of or reached genome-wide significance in the common variant analysis, nor was any genetic locus significant in the rare variant analysis. A single, possible gene locus association (*COL12A1*) was identified in the rare variant analysis for patients with both fever and rash, but the sample size was very small in this subgroup (n=16), and this may be a false positive finding. No other significant associations were found for the subgroups. No convincing genetic risk factors for sulfonamide HS were identified in this population. These negative findings may be due to challenges in accurately confirming the phenotype in exanthematous drug eruptions, or to unidentified gene-environment interactions influencing sulfonamide HS. Reprinted under PLOS ONE's open access license, CC-BY (http://www.plos.org/open-access).
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Versions (1)
- 19/06/2023 19/06/2023 - Chiara Middel
Détendeur de droits
Lauren A. Trepanier, DVM, PhD, University of Wisconsin-Madison, School of Veterinary Medicine, Madison, WI, USA
Téléchargé le
19 juin 2023
DOI
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Creative Commons BY 4.0
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dbGaP phs001124 Mechanisms of Risk for Sulfonamide Hypersensitivity
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent data table contains subject IDs, consent group information, subject aliases, and affection status for sulfonamide hypersensitivity (HS).
- This subject sample mapping data table includes a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. This table also includes sample aliases.
- This subject phenotype table includes subject's sex and age.
- This sample attributes table includes body site where sample was collected, analyte type, histological type, tumor status, genotyping center, genotype platform, sample inclusion or exclusion in GWAS association analyses, and genome strand and build for SNP calling.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent data table contains subject IDs, consent group information, subject aliases, and affection status for sulfonamide hypersensitivity (HS).
- This subject sample mapping data table includes a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. This table also includes sample aliases.
- This subject phenotype table includes subject's sex and age.
- This sample attributes table includes body site where sample was collected, analyte type, histological type, tumor status, genotyping center, genotype platform, sample inclusion or exclusion in GWAS association analyses, and genome strand and build for SNP calling.
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