Clinical Implication of the C Allele of the ITPKC Gene SNP rs28493229 in Kawasaki Disease: Association With Disease Susceptibility and BCG Scar Reactivation.
Pediatr Infect Dis J
; 30(2): 148-52, 2011 Feb.
Article
em En
| MEDLINE
| ID: mdl-20805785
ABSTRACT
BACKGROUND:
a functional single nucleotide polymorphism (SNP) (rs28493229) in the inositol 1,4,5-trisphosphate 3-kinase C (ITPKC) gene has been linked to the susceptibility to Kawasaki disease (KD). The implication remains unclear. SUBJECTS ANDMETHODS:
genotyping for the ITPKC polymorphism was conducted on 280 unrelated Taiwanese children with KD and 492 healthy ethnically and gender-matched controls. The clinical manifestations and laboratory data were systemically collected.RESULTS:
the GC and CC genotypes of ITPKC gene SNP rs28493229 were overrepresented in KD patients (GGGCCC was 236431, C allele frequency 8.04%) than those in the controls (GGGCCC was 454371, C allele frequency 3.96%; OR 2.23, P = 0.001). In KD patients, those with GC or CC genotypes of SNP rs28493229 (19/44) were more likely to have reactivation at the Bacille Calmette-Guérin (BCG) inoculation site than those with GG genotypes (66/236; OR 1.96, P = 0.044). Such association was particularly strong in patients aged <20 months (OR 3.26, P = 0.017). The other clinical manifestations were not related to this SNP. There were 160 (57.1%) patients with coronary arterial lesions. The development and the severity of coronary arterial lesion were also not associated with this SNP. Comparison between patients with and without BCG reactivation revealed only one difference patients with reactivation were younger.CONCLUSION:
in a cohort from a population with the world's third highest incidence of KD, we demonstrated that the C-allele of ITPKC SNP rs28493229 is associated with KD susceptibility and BCG scar reactivation during the acute phase, although its frequency is lower than that in the Japanese cohort (22.6%), suggesting this SNP contributes to KD susceptibility through induced hyperimmune function reflected in the BCG reactivation.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Vacina BCG
/
Cicatriz
/
Fosfotransferases (Aceptor do Grupo Álcool)
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Polimorfismo de Nucleotídeo Único
/
Suscetibilidade a Doenças
/
Síndrome de Linfonodos Mucocutâneos
Tipo de estudo:
Risk_factors_studies
Limite:
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
Pediatr Infect Dis J
Assunto da revista:
DOENCAS TRANSMISSIVEIS
/
PEDIATRIA
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
Taiwan