Chen Shih-Yin, Wan Lei, Huang Yu-Chuen, Sheu Jim Jinn-Chyuan, Lan Yu-Ching, Lai Chih-Ho, Lin Cheng-Wen, Chang Jeng Sheng, Tsai Yuhsin, Liu Shih-Ping, Lin Ying-Ju, Tsai Fuu-Jen
Department of Medical Research, Department of Medical Genetics, China Medical University Hospital, No. 2 Yuh Der Road, Taichung, Taiwan.
J Clin Lab Anal. 2009;23(2):71-6. doi: 10.1002/jcla.20292.
Interleukin-18 (IL-18)-656T/G, -607A/C, and -137C/G promoter polymorphisms had been reported associated with Kawasaki disease (KD). An IL-18 genetic A/C polymorphism at coding position 105 (rs549908) has been linked with asthma, rheumatoid, and systemic lupus erythematosus. We tested a hypothesis that the IL-18 105A/C genetic polymorphism confers KD susceptibility. Study participants were Taiwanese KD patients and a healthy control group. Our data indicated that the frequency of C allele was significantly higher in the patient group (13.9%) than in the control group (2.7%; P<0.0001, odds ratio [OR]=5.93; 95% confidence interval [CI]=2.57-13.73). Therefore, persons with the C allele may have higher risk of developing KD. In addition, compared with the haplotype frequencies between case and control groups, the KD patients with TACC haplotype appeared to be a significant "at-risk" haplotype compared with other haplotypes (OR: 4.62, 95% CI: 1.71-12.43; P=0.001). KD patient with the TAGA haplotype appeared to be a significant "protective" haplotype compared with other haplotypes (OR: 0.51, 95% CI:0.29-0.89; P=0.017). Our results suggest that 105A/C polymorphism and the haplotypes in IL-18 gene are associated with the risk of KD in Taiwanese population.
白细胞介素-18（IL-18）-656T/G、-607A/C和-137C/G启动子多态性已被报道与川崎病（KD）相关。编码位置105（rs549908）处的IL-18基因A/C多态性与哮喘、类风湿性关节炎和系统性红斑狼疮有关。我们检验了一个假设，即IL-18 105A/C基因多态性赋予KD易感性。研究参与者为台湾KD患者和健康对照组。我们的数据表明，患者组中C等位基因的频率（13.9%）显著高于对照组（2.7%；P<0.0001，优势比[OR]=5.93；95%置信区间[CI]=2.57-13.73）。因此，携带C等位基因的人患KD的风险可能更高。此外，与病例组和对照组之间的单倍型频率相比，与其他单倍型相比，具有TACC单倍型的KD患者似乎是一个显著的“高危”单倍型（OR：4.62，95%CI：1.71-12.43；P=0.001）。与其他单倍型相比，具有TAGA单倍型的KD患者似乎是一个显著的“保护性”单倍型（OR：0.51，95%CI：0.29-0.89；P=0.017）。我们的结果表明，IL-18基因中的105A/C多态性和单倍型与台湾人群中KD的风险相关。
