Wu Jiping, Yu Meng, Huang Lihua, Qian Yujie, Kong Min, Kang Zhijuan, Yang Zuocheng
Department of Pediatrics, The Third Xiangya Hospital, Central South University, Changsha, China.
Cardiol Young. 2021 Feb;31(2):179-185. doi: 10.1017/S104795112000356X. Epub 2020 Oct 30.
Kawasaki disease is a type of acute febrile rash disease that is common in children and is characterised by primary lesions of systemic middle and small vasculitis, which can lead to coronary artery lesions. Manganese superoxide dismutase (MnSOD), one of the most important antioxidases in the human body, plays a key role in maintaining the balance of free radicals in the human body. Two single-nucleotide polymorphisms (SNPS) (rs4880 and rs5746136) in the MnSOD gene were related to oxidative stress disease. The purpose of this study is to explore the possible relationship between MnSOD gene polymorphisms and Kawasaki disease susceptibility.
This study included 100 Kawasaki disease children and 102 healthy children. Two single-nucleotide polymorphisms (rs4880 and rs5746136) were detected by polymerase chain reaction sequence-based typing.
There was a significant difference in both the genotype frequency (χ2 = 10.805, p = 0.005) and the allele frequency (χ2 = 7.948, p = 0.005) of rs5746136 between the Kawasaki disease group and the control group. Children with the A allele had a 0.558 times lower risk of Kawasaki disease than those without the A allele (χ2 = 7.948, p = 0.005, odds ratio = 0.558, 95% confidence interval = 0.371-0.838). There was no significant difference in the genotype and gene frequencies of rs5746136 between the Kawasaki disease-coronary artery lesion and Kawasaki disease-without coronary artery lesion groups (p > 0.05), and there was no significant difference in the rs4880 genotype and allele frequencies between the Kawasaki disease and healthy control groups or between the Kawasaki disease-coronary artery lesion and Kawasaki disease-without coronary artery lesions groups (p > 0.05).
This study provides evidence supporting an association between MnSOD gene polymorphisms and susceptibility to Kawasaki disease. The genotype AA and the allele A of the MnSOD gene locus rs5746136 were risk factors for Kawasaki disease.
川崎病是一种常见于儿童的急性发热出疹性疾病，其特征为全身性中小血管炎的原发性病变，可导致冠状动脉病变。锰超氧化物歧化酶（MnSOD）是人体最重要的抗氧化酶之一，在维持人体自由基平衡中起关键作用。MnSOD基因中的两个单核苷酸多态性（SNP）（rs4880和rs5746136）与氧化应激疾病有关。本研究的目的是探讨MnSOD基因多态性与川崎病易感性之间的可能关系。
本研究纳入100例川崎病患儿和102例健康儿童。通过基于聚合酶链反应序列的分型检测两个单核苷酸多态性（rs4880和rs5746136）。
川崎病组与对照组之间rs5746136的基因型频率（χ2 = 10.805，p = 0.005）和等位基因频率（χ2 = 7.948，p = 0.005）均存在显著差异。携带A等位基因的儿童患川崎病的风险比未携带A等位基因的儿童低0.558倍（χ2 = 7.948，p = 0.005，比值比 = 0.558，95%置信区间 = 0.371 - 0.838）。川崎病合并冠状动脉病变组与川崎病无冠状动脉病变组之间rs5746136的基因型和基因频率无显著差异（p > 0.05），川崎病组与健康对照组之间或川崎病合并冠状动脉病变组与川崎病无冠状动脉病变组之间rs4880的基因型和等位基因频率无显著差异（p > 0.05）。
本研究提供了支持MnSOD基因多态性与川崎病易感性之间存在关联的证据。MnSOD基因位点rs5746136的AA基因型和A等位基因是川崎病的危险因素。
