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Association between 17β-HSD8 polymorphisms and Kawasaki disease among Han Chinese children in Taiwan

Shih-Yin Chen^a,b, Ying-Ju Lin^a,b, Jeng Sheng Chang^d, Yu-Chuen Huang^a,b, Jim Jinn-Chyuan Sheu^a,b, Yao-Yuan Hsieh^b,c, Lei Wan^a,b, Fuu-Jen Tsai^d,e,f,*

 
ABSTRACT:     Kawasaki disease (KD) is considered infectious, with immunologic expressions caused by genetic susceptibility of individuals. The 17β-hydroxysteroid dehydrogenase type 8 (17β-HSD8) enzymes are involved in the biosynthesis of oestrogens and androgens and regulate immune responses through hormonal modulation in mammals. To clarify the relationship between 17β-HSD8 gene single nucleotide polymorphisms (SNPs) and the pathogenesis of KD, we investigated association between 17β-HSD8 SNPs (rs421446, rs213213) and KD in Taiwanese children. Genotype analysis involved 93 KD patients and 680 unrelated healthy children. Our findings indicated the frequency of A allele in polymorphisms rs421446 was markedly higher among the patient group (43.3%) than in the control group (34.0%; p=0.032). Children with the A allele at rs421446 SNP may show higher risk of developing KD, particularly those with AA homozygous genotype. From comparison of haplotype frequencies between case and control, children with AC haplotype appeared more ``at-risk'' for KD progression (p=0.022). Our results suggest that rs421446 polymorphism and the haplotypes in 17β-HSD8 gene are associated with the risk of KD in Taiwanese children.

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* Corresponding author, E-mail: d0704@mail.cmuh.org.tw

Received 29 Oct 2010, Accepted 28 Jun 2011