Recent advances in research on gene polymorphisms in Kawasaki disease

Abstract

Kawasaki disease (KD) is a systemic vasculitis primarily affecting children, and represents a major cause of acquired heart disease in this population. Although the etiology of KD remains incompletely understood, existing genome-wide association studies and genome-wide linkage studies have uncovered various susceptibility genes and their associated chromosomal regions as closely related to the onset and progression of KD. With the rapid advancement of high-throughput DNA sequencing technology, an increasing amount of genomic information pertinent to KD has been discovered, offering new perspectives to investigate the pathogenesis of KD. In particular, genetic polymorphisms play a pivotal role in the immune response, coronary artery lesions, and treatment responsiveness in KD, providing fresh insights into optimizing diagnostic and therapeutic strategies. This article aimed to review and summarize the crucial role of genetic polymorphisms in the pathogenesis of KD, analyze the latest advancements in current research, and discuss the potential applications of gene polymorphism studies in the future diagnosis and treatment of KD.

Keywords: Kawasaki disease; Genetic polymorphism; Coronary artery lesion; Immune response; Environmental factors

Core Tip: Genetic polymorphisms significantly contribute to the susceptibility, pathogenesis, and progression of Kawasaki disease (KD). These genetic variations impact immune responses, coronary artery lesions, and treatment effectiveness, offering insights into personalized diagnostic and therapeutic strategies. Advances in genomic research, particularly through genome-wide association studies and gene-environment interactions, provide a promising direction to understand the complex etiology of KD and to improve treatment outcomes.