PMID- 38545188 OWN - NLM STAT- PubMed-not-MEDLINE LR - 20240329 IS - 2405-8440 (Print) IS - 2405-8440 (Electronic) IS - 2405-8440 (Linking) VI - 10 IP - 6 DP - 2024 Mar 30 TI - Susceptibility of TSPAN5 polymorphisms to Kawasaki disease and immunoglobulin therapy resistance in southern Chinese children. PG - e27699 LID - 10.1016/j.heliyon.2024.e27699 [doi] LID - e27699 AB - Kawasaki disease (KD) is a condition characterized by acute multi-system vasculitis and high fever in infants and children. Intravenous immunoglobulin (IVIG) is the established therapeutic approach of KD,foralleviating inflammation and mitigate the risk of arterial wall dilation and the development of coronary artery aneurysms (CAA). But almost 20% of the patients developed resistance to IVIG and displayed persistent fever after standard primary treatment. TSPAN5, belonging to the Tetraspanin family, has been demonstrated to modulate innate immunity in a range of human diseases. It accomplishes this by engaging with integrins and actively participating in the process of infection recognition. However, its relevance to susceptibility and IVIG therapy response of KD was unexposed. In the present study, our Integrative analysis of KD transcriptomic data and GTEx data revealed that the eQTL rs12504972 might modify the downregulation of TSPAN5 in KD patients. Moreover, our findings suggest a potential association between TSPAN5/rs12504972 and an elevated susceptibility as well as IVIG resistance among patients with Kawasaki disease in southern China. The results provided a new insight that TSPAN5 triggered KD susceptibility and resistance of IVIG therapy on the genomic level. CI - (c) 2024 The Authors. FAU - Chen, Kaining AU - Chen K AD - Department of Clinical Biological Resource Bank, Guangzhou Institute of Pediatrics, Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510620, China. FAU - Luo, Xilian AU - Luo X AD - Department of Clinical Biological Resource Bank, Guangzhou Institute of Pediatrics, Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510620, China. FAU - Zhou, Huazhong AU - Zhou H AD - Department of Clinical Biological Resource Bank, Guangzhou Institute of Pediatrics, Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510620, China. FAU - Fu, Lanyan AU - Fu L AD - Department of Clinical Biological Resource Bank, Guangzhou Institute of Pediatrics, Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510620, China. FAU - Lu, Zhaojin AU - Lu Z AD - Department of Clinical Biological Resource Bank, Guangzhou Institute of Pediatrics, Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510620, China. FAU - Wang, Chenlu AU - Wang C AD - Department of Clinical Biological Resource Bank, Guangzhou Institute of Pediatrics, Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510620, China. FAU - Lin, Yueling AU - Lin Y AD - Department of Clinical Biological Resource Bank, Guangzhou Institute of Pediatrics, Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510620, China. FAU - Yu, Hongyan AU - Yu H AD - Department of Clinical Biological Resource Bank, Guangzhou Institute of Pediatrics, Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510620, China. FAU - Xu, Yufen AU - Xu Y AD - Department of Clinical Biological Resource Bank, Guangzhou Institute of Pediatrics, Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510620, China. FAU - Pi, Lei AU - Pi L AD - Department of Clinical Biological Resource Bank, Guangzhou Institute of Pediatrics, Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510620, China. FAU - Che, Di AU - Che D AD - Department of Clinical Biological Resource Bank, Guangzhou Institute of Pediatrics, Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510620, China. FAU - Wang, Zhouping AU - Wang Z AD - Department of Cardiology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China. FAU - Gu, Xiaoqiong AU - Gu X AD - Department of Clinical Biological Resource Bank, Guangzhou Institute of Pediatrics, Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510620, China. LA - eng PT - Journal Article DEP - 20240312 PL - England TA - Heliyon JT - Heliyon JID - 101672560 PMC - PMC10966590 COIS- The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. EDAT- 2024/03/28 06:46 MHDA- 2024/03/28 06:47 PMCR- 2024/03/12 CRDT- 2024/03/28 04:05 PHST- 2023/08/05 00:00 [received] PHST- 2023/12/19 00:00 [revised] PHST- 2024/03/05 00:00 [accepted] PHST- 2024/03/28 06:47 [medline] PHST- 2024/03/28 06:46 [pubmed] PHST- 2024/03/28 04:05 [entrez] PHST- 2024/03/12 00:00 [pmc-release] AID - S2405-8440(24)03730-7 [pii] AID - e27699 [pii] AID - 10.1016/j.heliyon.2024.e27699 [doi] PST - epublish SO - Heliyon. 2024 Mar 12;10(6):e27699. doi: 10.1016/j.heliyon.2024.e27699. eCollection 2024 Mar 30.