Evidence map›Paper›PMID 40974473›Full record

ArticleClinical and translational allergy2025

Identifying Genetic Variants in Patients With Cefaclor-Induced Anaphylaxis Using Human Leukocyte Antigen Typing and Whole-Exome Sequencing.

Sung-Ryeol Kim, Da Eun Lee, Hyun Young Jung, In-Wha Kim, Hye-Ryun Kang, Kyung Hee Park, Jung-Won Park, Jung-Mi Oh, Jae-Hyun Lee

Abstract read
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Article in Clinical and translational allergy, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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2citing papers in PubMed
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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Sung-Ryeol KimDivision of Pulmonology, Allergy and Critical Care Medicine, Department of Internal Medicine, Yongin Severance Hospital, Yonsei University College of Medicine, Yongin-si, South Korea.ORCID https://orcid.org/0000-0001-7418-0049
Da Eun LeeCollege of Pharmacy, Seoul National University, Seoul, South Korea.
Hyun Young JungCollege of Pharmacy, Seoul National University, Seoul, South Korea.
In-Wha KimResearch Institute of Pharmaceutical Sciences, Seoul National University, Seoul, South Korea.
Hye-Ryun KangDepartment of Internal Medicine, Seoul National University College of Medicine, Seoul, South Korea.ORCID https://orcid.org/0000-0002-2317-4201
Kyung Hee ParkInstitute of Allergy, Yonsei University College of Medicine, Seoul, South Korea.ORCID https://orcid.org/0000-0003-3605-5364
Jung-Won ParkInstitute of Allergy, Yonsei University College of Medicine, Seoul, South Korea.
Jung-Mi OhCollege of Pharmacy, Seoul National University, Seoul, South Korea.
Jae-Hyun LeeInstitute of Allergy, Yonsei University College of Medicine, Seoul, South Korea.ORCID https://orcid.org/0000-0002-0760-0071

Funding

Ministry of Food and Drug Safety 21182MFDS295Yonsei University College of Medicine 2025-32-0023
6 · The paper itself

Abstract

backgroundCefaclor is a commonly prescribed β-lactam antibiotic and a known major cause of immediate-type drug hypersensitivity in Korea. However, its genetic risk factors remain poorly understood. We aimed to identify genetic variants associated with cefaclor-induced anaphylaxis and evaluate their potential clinical implications.

methodsWhole-exome sequencing and HLA genotyping were performed in 33 patients with cefaclor-induced anaphylaxis and 41 drug-tolerant controls. Associations were assessed using logistic regression. Selected variants were validated in an independent Korean population. Gene set enrichment analysis (GSEA) was performed using association statistics from all variants to investigate relevant biological pathways.

resultsA rare missense variant, rs765144578 in TPSAB1 was strongly associated with anaphylaxis and remained significant in the validation control group. It was found in 90.91% of patients with hypotension, suggesting a link to reaction severity. Rs192498095 in HLA-DRB5 showed a significant association in the discovery cohort. However, it was not detected in the replication set, likely due to its rarity and polymorphic nature. Co-occurrence of rs765144578 in TPSAB1 and rs192498095 in HLA-DRB5 markedly increased risk. GSEA revealed significant enrichment of the TNF-α signaling via NF-κB pathway, reflecting pathway-level immune activation.

conclusionGenetic variants in TPSAB1 and HLA-DRB5 may contribute to the risk of cefaclor-induced anaphylaxis, and TPSAB1 may also be associated with severity. These findings may support the development of future screening strategies or individualized risk prediction models in β-lactam allergy.

Indexed as

anaphylaxiscefaclorgenetic variation

Identifiers

PMID40974473
PMCPMC12449841

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