Evidence map›Paper›PMID 41483211›Full record

ArticleEuropean journal of pediatrics2026

Host genetic variation in desmoglein-1 is associated with susceptibility to staphylococcal scalded skin syndrome.

Glykeria Rouva, Emmanouil Galanakis, Nikolaos Giormezis, Sofia Maraki, Fani Ladomenou, Maria Tsirigotaki, Georgia Martimianaki, Helen Dimitriou, Konstantinos Krasagakis, Eleni Vergadi

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Article in European journal of pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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10 authors.

Glykeria RouvaDepartment of Paediatrics, Medical School, University of Crete, University General Hospital of Heraklion, Heraklion, Greece.
Emmanouil GalanakisDepartment of Paediatrics, Medical School, University of Crete, University General Hospital of Heraklion, Heraklion, Greece.
Nikolaos GiormezisDepartment of Microbiology, Medical School, University of Patras, Patras, Greece.
Sofia MarakiDepartment of Microbiology, University General Hospital of Heraklion, Heraklion, Greece.
Fani LadomenouDepartment of Paediatrics, Venizeleion General Hospital, Heraklion, Greece.
Maria TsirigotakiDepartment of Paediatrics, Medical School, University of Crete, University General Hospital of Heraklion, Heraklion, Greece.
Georgia MartimianakiDivision of Mother and Child Health, Medical School, University of Crete, Heraklion, Greece.
Helen DimitriouDivision of Mother and Child Health, Medical School, University of Crete, Heraklion, Greece.
Konstantinos KrasagakisDepartment of Dermatology, Medical School, University of Crete, University General Hospital of Heraklion, Heraklion, Greece.
Eleni VergadiDepartment of Paediatrics, Medical School, University of Crete, University General Hospital of Heraklion, Heraklion, Greece. eleni.vergadi@uoc.gr.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeStaphylococcal scalded skin syndrome (SSSS), caused by Staphylococcus aureus producing exfoliative toxins, develops in only a subset of colonized children, suggesting host genetic factors may influence disease susceptibility. Desmoglein-1 (DSG1), a key adhesion protein in the superficial epidermis, is the primary target of these exfoliative toxins. This study examined whether genetic variation in the DSG1 gene is associated with SSSS in children.

methodsWe conducted a prospective case-control study of children aged 0-5 years, including patients diagnosed with SSSS and age-matched controls who either had non-SSSS S. aureus infections or were asymptomatic carriers, and whose isolates were PCR-confirmed to harbor at least one of the eta and/or etb toxin genes. Genotyping of the DSG1 rs12967407 single nucleotide polymorphism (SNP) was performed using PCR-RFLP.

resultsEighty SSSS cases and forty controls were enrolled. The C/C genotype was significantly more common in cases than controls (43.8% vs. 12.5%; p = 0.003), whereas the T/T genotype predominated in controls (47.5%) compared to patients (22.5%) (p = 0.006). The C allele was overrepresented among cases (61.3% vs. 32.5%, p < 0.001). Multivariate logistic regression, adjusted for confounders, showed that children with the C/C genotype have a significantly increased risk of developing SSSS (OR = 4.7; 95% CI: 1.3-17.1; p = 0.018).

conclusionDSG1-focused genetic profiling may aid in identifying children with heightened susceptibility to SSSS; the rs12967407 C/C genotype confers increased risk for SSSS in children, while the T/T genotype appears to have a protective association. WHAT IS KNOWN: • Staphylococcal scalded skin syndrome (SSSS) results from S. aureus exfoliative toxins targeting Desmoglein-1; yet interindividual susceptibility varies. • Host genetic factors in SSSS pathogenesis have not been systematically explored. WHAT IS NEW: • This study identifies a significant association between the DSG1 rs12967407 polymorphism and paediatric SSSS. • A significantly increased frequency of the homozygous C/C genotype was detected in SSSS-affected patients, indicating a potential genetic susceptibility. • These findings introduce host genetic variation as a novel determinant in SSSS pathogenesis beyond bacterial virulence.

Indexed as

Desmoglein 1Genetic Predisposition to DiseasePolymorphism, Single NucleotideStaphylococcal Scalded Skin SyndromeCase-Control StudiesChild, PreschoolFemaleGenotypeHumansInfantInfant, NewbornMaleProspective StudiesStaphylococcus aureusDesmoglein 1DSG1 protein, humanDesmoglein-1 geneSNPsStaphylococcal scalded skin syndrome

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.