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

作者：Chen Shih Yin; Lin Ying Ju; Chang Jeng Sheng; Huang Yu Chuen; Sheu Jim Jinn Chyuan; Hsieh Yao Yuan; Wan Lei; Tsai Fuu Jen^*

来源：ScienceAsia, 2011, 37(3): 214-218.

DOI：10.2306/scienceasia1513-1874.2011.37.214

• coronary artery lesions

Kawasaki disease (KD) is considered infectious, with immunologic expressions caused by genetic susceptibility of individuals. The 17 beta-hydroxysteroid dehydrogenase type 8 (17 beta-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 17 beta-HSD8 gene single nucleotide polymorphisms (SNPs) and the pathogenesis of KD, we investigated association between 17 beta-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 17 beta-HSD8 gene are associated with the risk of KD in Taiwanese children.

• 出版日期2011-9
• 单位中国医科大学