title: Association of COL11A2 polymorphism with susceptibility to Kawasaki disease and development of coronary artery lesions.
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.
authors.affiliation: Graduate Institute of Chinese Medical Science, China Medical University, Taichung, Taiwan.
authors.forename: J J
authors.initials: JJ
authors.lastname: Sheu
authors.forename: Y J
authors.initials: YJ
authors.lastname: Lin
authors.forename: J S
authors.initials: JS
authors.lastname: Chang
authors.forename: L
authors.initials: L
authors.lastname: Wan
authors.forename: S Y
authors.initials: SY
authors.lastname: Chen
authors.forename: Y C
authors.initials: YC
authors.lastname: Huang
authors.forename: C
authors.initials: C
authors.lastname: Chan
authors.forename: I W
authors.initials: IW
authors.lastname: Chiu
authors.forename: F J
authors.initials: FJ
authors.lastname: Tsai
mesh_terms: D001327:Autoimmune Diseases / Q000235:genetics; D002648:Child; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D024161:Collagen Type XI / Q000096:biosynthesis / Q000235:genetics*; D003324:Coronary Artery Disease / Q000209:etiology / Q000235:genetics*; D003331:Coronary Vessels / Q000473:pathology; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D009080:Mucocutaneous Lymph Node Syndrome / Q000150:complications / Q000235:genetics* / Q000473:pathology; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide
chemical_list: C499319:COL11A2 protein, human; D024161:Collagen Type XI; D005819:Genetic Markers