title: Human lymphocyte antigen B-associated transcript 2, 3, and 5 polymorphisms and haplotypes are associated with susceptibility of Kawasaki disease and coronary artery aneurysm.
abstract: HLA-B associated transcript (BAT) 2, 3, and 5 polymorphisms and haplotypes are associated with Kawasaki disease (KD) and coronary artery aneurysm (CAA) formations.
  
  
  OBJECTIVE
  KD, an acute vasculitis with unknown etiology, involves a complex interaction of immuno-inflammatory process, cytokines activation, and genetic factors. We aimed to investigate if genetic variants of human lymphocyte antigen (HLA)-BAT2, 3, and 5 (BAT2, 3, and 5) could be used as markers of susceptibility in KD and CAA.
  
  
  METHODS
  Individuals were divided into three groups: (1) normal controls; (2) KD with CAA; and (3) KD without CAA. Polymorphisms for BAT2 (-8671, 16483), BAT3 (8854, 2-24), and BAT5 (22655, 9569) were genotyped by PCR system with TaqMan allelic discrimination assay. Genotype/allelic frequencies and haplotypes (BAT2(-8671)-BAT2(16483)-BAT3(8854)-BAT3(2-24)-BAT5(22655)-BAT5(9569)) in each group were compared.
  
  
  RESULTS
  Genotype distribution and allele frequency of BAT2 -8671, BAT3 8854, and BAT5 22655, 9569 polymorphisms in each group were significantly different. BAT2 -8671*G, BAT3 8854*C, BAT5 22655*C, and 9569*A-related genotypes and alleles are correlated with the developments of KD and CAA. BAT haplotypes of ATTGTG and ATCATG are associated with higher susceptibilities of KD with CAA susceptibility.
  
  
  CONCLUSIONS
  BAT2 -8671, BAT3 8854, and BAT5 22655, 9569 polymorphisms as well as BAT haplotypes (ATTGTG and ATCATG) might be associated with higher KD susceptibility and CAA formation. HLA-B region polymorphisms might contribute to the pathogenesis of KD and CAA.
authors.affiliation: School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan.
authors.forename: Yao-Yuan
authors.initials: YY
authors.lastname: Hsieh
authors.forename: Ying-Ju
authors.initials: YJ
authors.lastname: Lin
authors.forename: Chi-Chen
authors.initials: CC
authors.lastname: Chang
authors.forename: Da-Yuan
authors.initials: DY
authors.lastname: Chen
authors.forename: Chin-Mu
authors.initials: CM
authors.lastname: Hsu
authors.forename: Yu-Kuo
authors.initials: YK
authors.lastname: Wang
authors.forename: Kung-Hao
authors.initials: KH
authors.lastname: Hsu
authors.forename: Fuu-Jen
authors.initials: FJ
authors.lastname: Tsai
mesh_terms: D016009:Chi-Square Distribution; D002648:Child; D002675:Child, Preschool; D002896:Chromosomes, Human, Pair 6; D003323:Coronary Aneurysm / Q000235:genetics*; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease; D015235:HLA-B Antigens / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D008297:Male; D018832:Molecular Chaperones / Q000235:genetics*; D009080:Mucocutaneous Lymph Node Syndrome / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011506:Proteins / Q000235:genetics*
chemical_list: C092009:BAG6 protein, human; D005819:Genetic Markers; D015235:HLA-B Antigens; D018832:Molecular Chaperones; D011506:Proteins; C092008:PRRC2A protein, human