Yao Meiqing, He Qin, Yang Manqiong, Wu Zhixiang, Li Ying, Kong Min, Kang Zhijuan, Yi Lu, Hu Yanan, Huang Lihua, Li Zhuoying, Yang Zuocheng
Department of Pediatrics, Third Xiangya Hospital of Central South University, Changsha, China.
Department of Pediatrics, Hunan Provincial People's Hospital, Changsha, China.
Front Pediatr. 2022 Aug 9;10:899779. doi: 10.3389/fped.2022.899779. eCollection 2022.
Kawasaki disease (KD) is an acute systemic vasculitis of unknown etiology. The rs8108402 C/T single nucleotide polymorphism (SNP) is located in the promoter region of miR-181-c/d gene and the intron of Nanos3 gene. The miR-181 family contributes to the pathogenesis of cardiovascular and inflammatory disorders, while Nanos3 is involved in DNA transcription regulation and cell proliferation. However, no studies have examined the association between miR-181c/d and Nanos3 polymorphisms and the susceptibility and progression of KD.
The purpose of our study is to examine the association of miR-181c/miR-181d/Nanos3 gene locus rs8108402 C/T polymorphism with KD susceptibility, intravenous immunoglobulin (IVIG) responsiveness, and the development of coronary artery lesions (CAL).
Peripheral blood specimens from 100 children with KD and 100 healthy children were collected. The polymorphism of rs8108402 C/T was detected using polymerase chain reaction-sequencing-based typing technique.
There were statistically significant differences in C and T allele frequency distributions between the KD group and healthy controls for the polymorphic site rs8108402 C/T ( = 0.002). The distribution of the genotypes CC, CT, and TT also presented statistical significant difference between the KD and control groups ( = 0.003). Compared to the rs8108402 C allele, the T allele was associated with increased KD susceptibility (OR = 2.080, 95% CI = 1.317∼3.283). However, there were no significant associations discovered between the rs8108402 C/T polymorphism and CAL formation or IVIG unresponsiveness in the study.
SNP rs8108402 C/T located in the miR-181c/d promoter and Nanos3 intronic region is associated with susceptibility to Kawasaki disease but not with the development of coronary artery lesions or IVIG unresponsiveness in Chinese children.
川崎病（KD）是一种病因不明的急性全身性血管炎。rs8108402 C/T单核苷酸多态性（SNP）位于miR-181-c/d基因的启动子区域和Nanos3基因的内含子中。miR-181家族参与心血管和炎症性疾病的发病机制，而Nanos3参与DNA转录调控和细胞增殖。然而，尚无研究探讨miR-181c/d和Nanos3基因多态性与KD易感性及病情进展之间的关系。
本研究旨在探讨miR-181c/miR-181d/Nanos3基因位点rs8108402 C/T多态性与KD易感性、静脉注射免疫球蛋白（IVIG）反应性及冠状动脉病变（CAL）发生之间的关系。
收集100例KD患儿和100例健康儿童的外周血标本。采用基于聚合酶链反应测序的分型技术检测rs8108402 C/T的多态性。
rs8108402 C/T多态性位点在KD组和健康对照组之间的C和T等位基因频率分布存在统计学显著差异（=0.002）。KD组和对照组之间CC、CT和TT基因型的分布也存在统计学显著差异（=0.003）。与rs8108402 C等位基因相比，T等位基因与KD易感性增加相关（OR=2.080，95%CI=1.317∼3.283）。然而，本研究未发现rs8108402 C/T多态性与CAL形成或IVIG无反应性之间存在显著关联。
位于miR-181c/d启动子和Nanos3内含子区域的SNP rs8108402 C/T与中国儿童川崎病易感性相关，但与冠状动脉病变的发生或IVIG无反应性无关。
