Patra Pratap Kumar, Jindal Ankur Kumar, Rikhi Rashmi, Kaur Anit, Srivastava Priyanka, Suri Deepti, Rawat Amit, Pilania Rakesh, Singh Surjit
Department of Pediatrics, All India Institute of Medical Sciences, Patna, India.
Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.
Front Pediatr. 2023 Sep 21;11:1252024. doi: 10.3389/fped.2023.1252024. eCollection 2023.
gene single-nucleotide polymorphisms (SNPs) have been associated with susceptibility and development of coronary artery abnormalities (CAAs) in children with Kawasaki disease (KD) in Japanese, Chinese, and Taiwanese populations. However, data on SNPs of the gene in patients with KD from the Indian subcontinent are not available. We studied the gene polymorphisms and its expression in children with KD from North India.
SNPs of the gene (, were studied using Sanger sequencing. CD40 expression was studied by flow cytometry. Meta-analysis was carried out to assess the role of both SNPs of the gene in KD. GRADEpro GDT software (v.3.2) was used to assess the "certainty of evidence."
Forty-one patients with KD and 41 age-, sex-matched febrile controls were enrolled. However, none of the alleles and genotypes of the gene were found to be associated with KD. CD40 expression was higher in KD and in KD with CAAs compared to controls, but it failed to reach statistical significance. In a meta-analysis, the T allele of was found to be significantly associated with KD (OR = 1.28; 95% confidence interval (: 1.09-1.50; = 0.002). The GRADE of evidence for this outcome, however, is of " very low certainty."
The present study found no association between SNPs ( and ) and susceptibility to KD. This could be a reflection of a modest sample size. CD40 expression was higher in KD and in KD with CAAs. In the meta-analysis, the T allele of was significantly associated with KD. Our study confirms a significant genetic heterogeneity in KD among different ethnicities.
在日本、中国和台湾人群中，基因单核苷酸多态性（SNP）与川崎病（KD）患儿冠状动脉异常（CAA）的易感性及发展有关。然而，来自印度次大陆的KD患者该基因SNP的数据尚不可用。我们研究了印度北部KD患儿的该基因多态性及其表达。
采用桑格测序法研究该基因（，）的SNP。通过流式细胞术研究CD40表达。进行荟萃分析以评估该基因的两个SNP在KD中的作用。使用GRADEpro GDT软件（v.3.2）评估“证据的确定性”。
纳入41例KD患者和41例年龄、性别匹配的发热对照。然而，未发现该基因的任何等位基因和基因型与KD相关。与对照组相比，KD患者以及伴有CAA的KD患者中CD40表达更高，但未达到统计学意义。在荟萃分析中，发现该基因的T等位基因与KD显著相关（OR = 1.28；95%置信区间（：1.09 - 1.50； = 0.002）。然而，这一结果的证据等级为“非常低的确定性”。
本研究未发现SNP（和）与KD易感性之间存在关联。这可能反映了样本量较小。KD患者以及伴有CAA的KD患者中CD40表达更高。在荟萃分析中，该基因的T等位基因与KD显著相关。我们的研究证实了不同种族间KD存在显著的遗传异质性。
