Identification of B-cell-related HSPG2 and CDSN as susceptibility loci for Kawasaki disease.

Autor: Kim JJ; Asan Institute for Life Sciences, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea., Hong YM; Department of Pediatrics, Ewha Womans University Hospital, Seoul, Korea., Yun SW; Department of Pediatrics, Chung-Ang University Hospital, Seoul, Korea., Lee KY; Department of Pediatrics, The Catholic University of Korea, Daejeon St. Mary's Hospital, Daejeon, Korea., Yoon KL; Department of Pediatrics, Kyung Hee University Hospital at Gangdong, Seoul, Korea., Han MK; Department of Pediatrics, University of Ulsan, Gangneung Asan Hospital, Gangneung, Korea., Kim GB; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea., Kil HR; Department of Pediatrics, Chungnam National University Hospital, Daejeon, Korea., Song MS; Department of Pediatrics, Inje University Paik Hospital, Busan, Korea., Lee HD; Department of Pediatrics, Pusan National University Hospital, Busan, Korea., Ha KS; Department of Pediatrics, Korea University Hospital, Seoul, Korea., Jun HO; Department of Cardiovascular Surgery, Severance Cardiovascular Hospital, Yonsei University College of Medicine, Seoul, Korea., Yu JJ; Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea., Jang GY; Department of Pediatrics, Korea University Hospital, Seoul, Korea., Lee JK; Asan Institute for Life Sciences, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea. Electronic address: cookie_jklee@hotmail.com.
Jazyk: angličtina
Zdroj: Human immunology [Hum Immunol] 2023 Oct; Vol. 84 (10), pp. 567-570. Date of Electronic Publication: 2023 Jul 13.
DOI: 10.1016/j.humimm.2023.07.001
Abstrakt: Kawasaki disease (KD) is an acute pediatric vasculitis that predominantly affects children under the age of 5 years. To date, genome-wide association studies (GWAS) have identified several KD susceptibility genes (e.g., BLK, CD40, FCGR2A, BCL2L11, and IGHV), which are mainly involved in B cell immunity. In this study, we aimed to identify additional KD susceptibility genes mainly involved in B cell development and functions by analyzing our previous GWAS data and conducting a replication study using new sample. Initially, we selected 30 single nucleotide polymorphisms (SNPs) in B-cell-related genes that were significantly (P < 0.01) associated with KD in our previous GWAS analysis of 247 KD cases with complete type and 1,000 healthy controls. Replication study was performed by genotyping the new 837 KD case samples with Fluidigm system and comparing them with 3,553 control genotypes. Among the 30 candidate SNPs, two were significantly associated with KD (P < 0.001) in the replication study. An even greater association between these SNPs and KD was observed in the combined analysis of GWAS and replication samples: odds ratio (OR) = 1.97 (P = 8.61 × 10 -6 ) for rs2270699 (nonsynonymous SNP: c.10588C > T, p.Arg3530Trp) in the heparan sulfate proteoglycan 2 (HSPG2) gene and OR = 1.28 (P = 1.34 × 10 -6 ) for rs3130992 (intronic SNP) in both the corneodesmosin (CDSN) and psoriasis susceptibility 1 candidate 1 (PSORS1C1) genes. These results suggest that the B-cell-related genes, HSPG2 and CDSN or PSORS1C1, play a role in the development of KD.
Competing Interests: Declaration of Competing Interest 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.
(Copyright © 2023 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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