Abstract
BackgroundThe sorting nexin (SNX) family is involved in endocytosis and protein trafficking and plays multiple roles in various diseases. The role of SNX proteins in Kawasaki disease (KD) is not known. We attempted to test whether genetic SNX variation associates with the risk of coronary artery aneurysm (CAA) formation in KD.Methods and resultsChi-square tests were used to identify SNX24 genetic variants associated with KD susceptibility and CAA formation in KD; models were adjusted for fever duration and time of first administration of intravenous immunoglobulin. We obtained clinical characteristics and genotypes from KD patients (76 with CAA and 186 without CAA) in a population-based retrospective KD cohort study (n = 262). Clinical and genetic factors were associated with CAA formation in KD. In addition, endothelial cell inflammation was evaluated. Significant correlation was observed between KD with CAA complications and the rs28891 single-nucleotide polymorphism in SNX24. Patients with CC + CT genotypes had lesser CAA complications. In lipopolysaccharide-treated human umbilical vein endothelial cells, siRNA knockdown of SNX24 significantly decreased gene expression of the proinflammatory cytokines IL-1 beta, IL-6, and IL-8.ConclusionsPolymorphisms in SNX24 may be used as genetic markers for the diagnosis and prognosis of CAA formation in KD.
Highlights
The sorting nexin (SNX) family is involved in endocytosis and protein trafficking and plays multiple roles in various diseases
Polymorphisms in SNX24 may be used as genetic markers for the diagnosis and prognosis of coronary artery aneurysm (CAA) formation in Kawasaki disease (KD)
Genotype frequencies of SNX24 polymorphisms A total of 262 KD patients and 1107 unrelated healthy control individuals were included in this study
Summary
The sorting nexin (SNX) family is involved in endocytosis and protein trafficking and plays multiple roles in various diseases. Complications in coronary artery aneurysms (CAA) make KD one of the leading causes of acquired cardiovascular diseases in. The sorting nexin (SNX) family of proteins consists of a diverse group of cytoplasmic or membrane-associated molecules that are characterized by the presence of a phospholipid-binding motif, the phox-homology (PX) domain, and are involved in endocytosis and protein trafficking [9,10]. The presence of a PX domain is the defining characteristic of this family and has been shown to bind various phosphatidylinositol phosphates (PtdInsPs) [11,12] This domain is thought to lead these proteins to specialized membrane domains with specific phospholipids [13]. The role of SNX proteins in endothelial cell injury and inflammation and their correlation with cardiovascular diseases such as KD remain to be elucidated
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