Association of COL11A2 polymorphism with susceptibility to Kawasaki disease and development of coronary artery lesions.
Int J Immunogenet
; 37(6): 487-92, 2010 Dec.
Article
en En
| MEDLINE
| ID: mdl-20618517
ABSTRACT
Kawasaki disease (KD) is a pediatric systemic vasculitis of unknown etiology wherein genetic influence is suspected. Gene clusters within the HLA region at chromosome 6p21.3 have been linked to KD and other autoimmune disorders. As collagen is a strong autoantigen inducing chronic inflammation in patients with vasculitis, this study tests a hypothesis that single-nucleotide polymorphism (SNP) of a collagen gene, COL11A2, located in this HLA region may affect susceptibility to Kawasaki disease and its arterial sequels. SNP sites rs2294478 (at promoter) and rs2076311 (at intron 19) were genome-typed on 93 KD patients and 680 healthy subjects. Genotypic and allelic frequencies analyses found A allele at rs2076311 as a risk allele for KD. Clinical association study showed protective potential of C/C genotype at rs2294478 and A/A at rs2076311 for developing coronary artery lesions (CALs) in patients. In addition, C-A haplotype of COL11A2 gene associates with KD development and can serve as a genetic marker to differentiate KD patients lacking CALs from those with such lesions. Our findings suggest the involvement of genetic variations of COL11A2 in Kawasaki disease and CAL formation.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Enfermedad de la Arteria Coronaria
/
Predisposición Genética a la Enfermedad
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Polimorfismo de Nucleótido Simple
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Colágeno Tipo XI
/
Síndrome Mucocutáneo Linfonodular
Tipo de estudio:
Etiology_studies
/
Risk_factors_studies
Límite:
Child
/
Humans
Idioma:
En
Revista:
Int J Immunogenet
Asunto de la revista:
ALERGIA E IMUNOLOGIA
/
GENETICA
Año:
2010
Tipo del documento:
Article
País de afiliación:
Taiwán