{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,16]],"date-time":"2026-05-16T01:16:48Z","timestamp":1778894208864,"version":"3.51.4"},"reference-count":55,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2025,9,20]],"date-time":"2025-09-20T00:00:00Z","timestamp":1758326400000},"content-version":"vor","delay-in-days":19,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100008005","name":"Yonsei University College of Medicine","doi-asserted-by":"publisher","award":["2025\u201032\u20100023"],"award-info":[{"award-number":["2025\u201032\u20100023"]}],"id":[{"id":"10.13039\/501100008005","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003569","name":"Ministry of Food and Drug Safety","doi-asserted-by":"publisher","award":["21182MFDS295"],"award-info":[{"award-number":["21182MFDS295"]}],"id":[{"id":"10.13039\/501100003569","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical &amp;amp; Translational All"],"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Cefaclor is a commonly prescribed \u03b2\u2010lactam antibiotic and a known major cause of immediate\u2010type drug hypersensitivity in Korea. However, its genetic risk factors remain poorly understood. We aimed to identify genetic variants associated with cefaclor\u2010induced anaphylaxis and evaluate their potential clinical implications.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Whole\u2010exome sequencing and HLA genotyping were performed in 33 patients with cefaclor\u2010induced anaphylaxis and 41 drug\u2010tolerant 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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A rare missense variant, rs765144578 in <jats:italic>TPSAB1<\/jats:italic> 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\u2010DRB5 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\u2010occurrence of rs765144578 in <jats:italic>TPSAB1<\/jats:italic> and rs192498095 in <jats:italic>HLA\u2010DRB5<\/jats:italic> markedly increased risk. GSEA revealed significant enrichment of the TNF\u2010\u03b1 signaling via NF\u2010\u03baB pathway, reflecting pathway\u2010level immune activation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Genetic variants in <jats:italic>TPSAB1<\/jats:italic> and <jats:italic>HLA\u2010DRB5<\/jats:italic> may contribute to the risk of cefaclor\u2010induced anaphylaxis, and <jats:italic>TPSAB1<\/jats:italic> may also be associated with severity. These findings may support the development of future screening strategies or individualized risk prediction models in \u03b2\u2010lactam allergy.<\/jats:p><\/jats:sec>","DOI":"10.1002\/clt2.70103","type":"journal-article","created":{"date-parts":[[2025,9,20]],"date-time":"2025-09-20T15:09:48Z","timestamp":1758380988000},"source":"Crossref","is-referenced-by-count":0,"title":["Identifying Genetic Variants in Patients With Cefaclor\u2010Induced Anaphylaxis Using Human Leukocyte Antigen Typing and Whole\u2010Exome Sequencing"],"prefix":"10.1002","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7418-0049","authenticated-orcid":false,"given":"Sung\u2010Ryeol","family":"Kim","sequence":"first","affiliation":[{"name":"Division of Pulmonology Allergy and Critical Care Medicine Department of Internal Medicine Yongin Severance Hospital Yonsei University College of Medicine  Yongin\u2010si South Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Da 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