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Human lymphocyte antigen B-associated transcript 2, 3, and 5 polymorphisms and haplotypes are associated with susceptibility of Kawasaki disease and coronary artery aneurysm.

AbstractCAPSULE:
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.
CONCLUSION:
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.
AuthorsYao-Yuan Hsieh, Ying-Ju Lin, Chi-Chen Chang, Da-Yuan Chen, Chin-Mu Hsu, Yu-Kuo Wang, Kung-Hao Hsu, Fuu-Jen Tsai
JournalJournal of clinical laboratory analysis (J Clin Lab Anal) Vol. 24 Issue 4 Pg. 262-8 ( 2010) ISSN: 1098-2825 [Electronic] United States
PMID20626023 (Publication Type: Journal Article)
Chemical References
  • BAG6 protein, human
  • Genetic Markers
  • HLA-B Antigens
  • Molecular Chaperones
  • Proteins
  • PRRC2A protein, human
Topics
  • Chi-Square Distribution
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 6
  • Coronary Aneurysm (genetics)
  • Female
  • Genetic Markers (genetics)
  • Genetic Predisposition to Disease
  • HLA-B Antigens (genetics)
  • Haplotypes
  • Humans
  • Male
  • Molecular Chaperones (genetics)
  • Mucocutaneous Lymph Node Syndrome (genetics)
  • Polymorphism, Single Nucleotide
  • Proteins (genetics)

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