Objective: Childhood onset Graves' disease (GD) has been documented to be clinically distinct from adult onset GD, and an association with the genes encoding HLA and CTLA-4 (cytotoxic T lymphocyte antigen-4) has been reported in both Caucasian and Japanese adult GD patients. The aim of this study was to determine whether HLA-DR, -DQ and CTLA-4 are associated with childhood onset GD in Japanese individuals.
Methods: We investigated the genotype of HLA class II (DRB1, DQB1) and the A/G transition polymorphism of CTLA-4 exon 1 position 49 in 43 GD patients and in healthy controls for comparison. The CTLA-4 alleles were identified by the polymerase chain reaction (PCR) of genomic DNA and restriction fragment-length polymorphism analysis (PCR-RFLP) with Ita1.
Results: The frequency of both HLA-DRB1*0405 and DQB1*0401 was increased in the patient group (DRB1*0405: 26.7%, p < 0.001; DQB1*0401: 25.6%, p < 0.005) compared with the controls. Patients with GD had a significantly lower frequency of the AA genotype of CTLA-4 than the controls, but there was no difference in allele frequency between the G and A allele.
Conclusions: the association of HLA-DRB1 and DQB1 genotype with susceptibility to childhood onset GD differs from that in adult onset GD, whereas the association between CTLA-4 gene polymorphism and childhood onset GD is similar to that in adult onset GD in Japanese individuals, but the association is weak.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1159/000083137 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Dental manifestations of hypophosphatasia: translational and clinical advances.
JBMR Plus
February 2025
Division of Biosciences, College of Dentistry, The Ohio State University, Columbus, OH, 43210, United States.
Hypophosphatasia (HPP) is an inherited error in metabolism resulting from loss-of-function variants in the gene, which encodes tissue-nonspecific alkaline phosphatase (TNAP). TNAP plays a crucial role in biomineralization of bones and teeth, in part by reducing levels of inorganic pyrophosphate (PP), an inhibitor of biomineralization. HPP onset in childhood contributes to rickets, including growth plate defects and impaired growth.
View Article and Find Full Text PDFA gut instinct for childhood leukemia prevention: microbiome-targeting recommendations aimed at parents and caregivers.
Front Public Health
January 2025
Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Centre of Child and Adolescent Health, Heinrich-Heine-University, Düsseldorf, Germany.
Childhood leukemia accounts for 30% of all pediatric cancer cases with acute lymphoblastic leukemia (ALL) being the most common subtype. Involvement of the gut microbiome in ALL development has recently garnered interest due to an increasing recognition of the key contribution the microbiome plays in maintaining the immune system's homeostatic balance. Commensal gut microbiota provide a first line of defense against different pathogens and gut microbiome immaturity has been implicated in ALL pathogenesis.
View Article and Find Full Text PDFDurable suppression of seizures in a preclinical model of KCNT1 genetic epilepsy with divalent small interfering RNA.
Epilepsia
January 2025
Atalanta Therapeutics, Boston, Massachusetts, USA.
Objective: Gain-of-function variants in the KCNT1 gene, which encodes a sodium-activated potassium ion channel, drive severe early onset developmental epileptic encephalopathies including epilepsy of infancy with migrating focal seizures and sleep-related hypermotor epilepsy. No therapy provides more than sporadic or incremental improvement. Here, we report suppression of seizures in a genetic mouse model of KCNT1 epilepsy by reducing Kcnt1 transcript with divalent small interfering RNA (siRNA), an emerging variant of oligonucleotide technology developed for the central nervous system.
View Article and Find Full Text PDFLong-term burden of body mass index since childhood and impaired physical performance in midlife.
Pediatr Res
January 2025
Department of Epidemiology, School of Public Health and Tropical Medicine, Tulane University, New Orleans, LA, USA.
Background: The impact of long-term burden of body mass index (BMI) since childhood on physical performance in midlife remains unclear. We aimed to investigate the association between cumulative exposure to BMI since childhood and midlife physical performance by using data from the Bogalusa Heart Study (BHS).
Methods: This longitudinal study consisted of 749 participants (aged 37.
Autoantibody clusters in childhood-onset systemic lupus erythematosus: Insights from a multicenter study with 912 patients.
Lupus
January 2025
Pediatric Rheumatology Unit, Instituto da Criança e do Adolescente, Hospital das Clínicas HCFMUSP, Sao Paulo, Brazil.
To identify clusters of autoantibodies in a large cSLE population and to verify possible associations between different autoantibody clusters and the following variables: demographic data, cumulative clinical and laboratory manifestations, disease activity, cumulative damage and mortality. A cross-sectional study was performed in 27 Pediatric Rheumatology University centers, including 912 cSLE patients. The frequencies of seven selected autoantibodies (anti-dsDNA, anti-Ro/SSA, anti-La/SSB, anti-Sm, anti-RNP, aCL IgM and/or IgG and LA) were used for cluster analysis using the K-means method.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!