Introduction: Recent studies have underscored the importance of genetic factors in predicting COVID-19 susceptibility and severity. While cytokine storms are crucial in disease severity, genetic predisposition significantly influences immune responses. Our study examined genes related to SARS-CoV-2 invasion ) and interferon-induced immunity (). Additionally, we investigated genes linked to Kawasaki disease () that play roles in immunogenesis.
Methods: The pilot study, which involved 75 pediatric patients aged one month to 17 years [43 patients with active COVID-19, 17 children with multisystem inflammatory syndrome in children (MIS-C), and 15 healthy controls], was conducted in Ternopil, Ukraine. Gene polymorphism was studied for all patients. ELISA kits were used for interleukin studies, including Human IL-1β (Interleukin 1 Beta), Human IL-6 (Interleukin 6), Human IL-8 (Interleukin 8), Human IL-12 (Interleukin 12), Human IFN-α (Interferon Alpha), and Human TNF-α (Tumor Necrosis Factor Alpha). Statistical analysis was performed using IBM SPSS Statistics 21 and GraphPad Prism 8.4.3.
Results: The analysis identified significant gene-cytokine associations in pediatric COVID-19 patients. The T allele correlated with increased IL-1β, IL-6, IL-8, and TNF-α. The A allele was linked to elevated IL-1β and IL-12 levels and low IFN-α levels, while A allele carriers also exhibited lower IFN-α levels. was prognostically crucial for determining IL-8 levels in children infected with SARS-CoV-2. gene polymorphism was associated with changes in IL-6 levels, precisely a high level. The T allele increased IFN-α levels, while carriers of allele C had higher levels of IL-12. The results of our study revealed a correlation between IL-8 levels and the gene polymorphism (A/G). The gene polymorphism led to an increase in IL-6.
Conclusion: These findings enhance our understanding of pediatric COVID-19 and may hold promise for developing targeted interventions and providing a personalized medical approach for each patient.
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http://dx.doi.org/10.3389/fped.2025.1523627 | DOI Listing |
Background: This study conducted genetic analysis on fetuses indicated to be at high risk by non-invasive prenatal testing (NIPT) to explore the etiology.
Methods: Karyotype analysis and single nucleotide polymorphism array (SNP-array) were performed to detect copy number variations in fetal amniotic fluid and parental peripheral blood.
Results: Fetal karyotype showed 46, X?, del (4) (q28q31.
Front Pediatr
February 2025
International Research and Innovation in Medicine Program, Cedars-Sinai Medical Center, Los Angeles, CA, United States.
Introduction: Recent studies have underscored the importance of genetic factors in predicting COVID-19 susceptibility and severity. While cytokine storms are crucial in disease severity, genetic predisposition significantly influences immune responses. Our study examined genes related to SARS-CoV-2 invasion ) and interferon-induced immunity ().
View Article and Find Full Text PDFFront Med (Lausanne)
February 2025
Respiratory Disease Unit, Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padova, Padova, Italy.
Rheumatoid arthritis (RA) is a systemic autoimmune disease that affects millions of people worldwide and is characterized by persistent inflammation, pain, and joint destruction. In RA, the dysregulation of the immune system is well documented. However, the genetic basis of the disease is not fully understood, especially when extra-articular organs are involved.
View Article and Find Full Text PDFDrug Des Devel Ther
March 2025
Department of Pharmacy, Fujian Medical University Union Hospital, Fuzhou, Fujian, 350001, People's Republic of China.
Background: Significant variability in the metabolism of midazolam (MDZ) exists among mechanically ventilated (MV) patients in the intensive care unit (ICU) due to complex clinical conditions and genetic factors. The NR1I2 gene (PXR), which encodes a nuclear receptor that regulates drug-metabolizing enzymes like CYP3A4, plays a critical role in MDZ metabolism. Polymorphisms in NR1I2, along with variations in genes such as CYP3A4, CYP3A5, and ABCB1, may influence enzyme activity and MDZ pharmacokinetics (PK).
View Article and Find Full Text PDFJ Clin Neurol
March 2025
Department of Neurology, Yonsei University College of Medicine, Seoul, Korea.
Background And Purpose: The risk factors for developing epilepsy following febrile convulsion (FC) have been studied extensively, but the underlying genetic components remain largely unexplored. Our objective here was to identify the risk loci related to FC through a genome-wide association study of Korean epilepsy patients.
Methods: We examined associations between a history of FC and single-nucleotide polymorphisms (SNPs) in data obtained from 125 patients with focal epilepsy: 28 with an FC history and 97 without an FC history.
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