Research advances in genetic polymorphisms in Kawasaki disease
DONG Ming-Xing, WANG Xi-Xia, JIAO Fu-Yong, ZHANG Wei-Hua
Shaanxi University of Chinese Medicine, Xianyang, Shaanxi 712000, China/Xianyang Children's Hospital, Xianyang,Shaanxi 712000, China (Zhang W-H, Email: xiangyuelanda2006@126.com)
Abstract:Kawasaki disease (KD) is a systemic inflammatory vascular disorder that predominantly affects children and is the leading cause of acquired heart disease in children. Although the etiology of this disease remains unclear, genome-wide association and genome-wide linkage studies have shown that some susceptible genes and chromosomal regions are associated with the development and progression of KD. With the advancement of high-throughput DNA sequencing techniques, more and more genomic information related to KD is being discovered. Understanding the genes involved in the pathogenesis of KD may provide novel insights into the diagnosis and treatment of KD. By analyzing related articles and summarizing related research advances, this article mainly discusses the T cell activation-enhancing genes that have been confirmed to be closely associated with the development and progression of KD and reveals their association with the pathogenesis of KD and coronary artery lesions.
Ae R, Makino N, Kosami K, et al. Epidemiology, treatments, and cardiac complications in patients with Kawasaki disease: the nationwide survey in Japan, 2017-2018[J]. J Pediatr, 2020, 225: 23-29.e2. PMID: 32454114. DOI: 10.1016/j.jpeds.2020.05.034.
McCrindle BW, Rowley AH, Newburger JW, et al. Diagnosis, treatment, and long-term management of Kawasaki disease: a scientific statement for health professionals from the American Heart Association[J]. Circulation, 2017, 135(17): e927-e999. PMID: 28356445. DOI: 10.1161/CIR.0000000000000484.
Yim D, Curtis N, Cheung M, et al. Update on Kawasaki disease: epidemiology, aetiology and pathogenesis[J]. J Paediatr Child Health, 2013, 49(9): 704-708. PMID: 23560706. DOI: 10.1111/jpc.12172.
Liu Y, Fu L, Pi L, et al. An angiotensinogen gene polymorphism (rs5050) is associated with the risk of coronary artery aneurysm in Southern Chinese children with Kawasaki disease[J]. Dis Markers, 2019, 2019: 2849695. PMID: 30719178. PMCID: PMC6335657. DOI: 10.1155/2019/2849695.
8 Li KL, Jiao Y, Liang JJ, et al. Screening key differentially expressed genes in Kawasaki disease via integrated analysis[J]. Iran J Pediatr, 2021, 31(6): e114730. DOI: 10.5812/ijp.114730.
Onouchi Y, Suzuki Y, Suzuki H, et al. ITPKC and CASP3 polymorphisms and risks for IVIG unresponsiveness and coronary artery lesion formation in Kawasaki disease[J]. Pharmacogenomics J, 2013, 13(1): 52-59. PMID: 21987091. DOI: 10.1038/tpj.2011.45.
Singh A, Rawat A, Kaur A, et al. Association of SNP (rs1042579) in thrombomodulin gene and plasma thrombomodulin level in north Indian children with Kawasaki disease[J]. Mol Biol Rep, 2022, 49(8): 7399-7407. PMID: 35587845. DOI: 10.1007/s11033-022-07533-8.
Bhattarai D, Kumrah R, Kaur A, et al. Association of ITPKC gene polymorphisms rs28493229 and rs2290692 in North Indian children with Kawasaki disease[J]. Pediatr Res, 2022, 92(4): 1090-1098. PMID: 34952936. DOI: 10.1038/s41390-021-01830-x.
Lin MT, Wang JK, Yeh JI, et al. Clinical implication of the C allele of the ITPKC gene SNP rs28493229 in Kawasaki disease: association with disease susceptibility and BCG scar reactivation[J]. Pediatr Infect Dis J, 2011, 30(2): 148-152. PMID: 20805785. DOI: 10.1097/INF.0b013e3181f43a4e.
Feske S, Gwack Y, Prakriya M, et al. A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function[J]. Nature, 2006, 441(7090): 179-185. PMID: 16582901. DOI: 10.1038/nature04702.
Coperchini F, Croce L, Marinò M, et al. Role of chemokine receptors in thyroid cancer and immunotherapy[J]. Endocr Relat Cancer, 2019, 26(8): R465-R478. PMID: 31146261. DOI: 10.1530/ERC-19-0163.
Talaat RM, Elsharnoby S, Abdelkhalek MS, et al. The impact of interferon-γ (IFN-γ) and IFN-γ-inducible protein 10 (IP-10) genes' polymorphism on risk of hepatitis C virus-related liver cirrhosis[J]. Immunol Invest, 2022, 51(3): 688-704. PMID: 33445993. DOI: 10.1080/08820139.2020.1869251.
Lev S, Gottesman T, Sahaf Levin G, et al. Observational cohort study of IP-10's potential as a biomarker to aid in inflammation regulation within a clinical decision support protocol for patients with severe COVID-19[J]. PLoS One, 2021, 16(1): e0245296. PMID: 33434221. PMCID: PMC7802954. DOI: 10.1371/journal.pone.0245296.
Sugiyama M, Kinoshita N, Ide S, et al. Serum CCL17 level becomes a predictive marker to distinguish between mild/moderate and severe/critical disease in patients with COVID-19[J]. Gene, 2021, 766: 145145. PMID: 32941953. PMCID: PMC7489253. DOI: 10.1016/j.gene.2020.145145.
Hsu YW, Lu HF, Chou WH, et al. Functional correlations between CXCL10/IP10 gene polymorphisms and risk of Kawasaki disease[J]. Pediatr Allergy Immunol, 2021, 32(2): 363-370. PMID: 32989803. DOI: 10.1111/pai.13381.
Fan KL, Li MF, Cui F, et al. Altered exosomal miR-181d and miR-30a related to the pathogenesis of CVB3 induced myocarditis by targeting SOCS3[J]. Eur Rev Med Pharmacol Sci, 2019, 23(5): 2208-2215. PMID: 30915768. DOI: 10.26355/eurrev_201903_17268.
Zhang Z, Xue Z, Liu Y, et al. MicroRNA-181c promotes Th17 cell differentiation and mediates experimental autoimmune encephalomyelitis[J]. Brain Behav Immun, 2018, 70: 305-314. PMID: 29545117. DOI: 10.1016/j.bbi.2018.03.011.
Rasouli M, Heidari B, Kalani M. Downregulation of Th17 cells and the related cytokines with treatment in Kawasaki disease[J]. Immunol Lett, 2014, 162(1 Pt A): 269-275. PMID: 25277751. DOI: 10.1016/j.imlet.2014.09.017.