Single-nucleotide Polymorphism rs17860041 A/C in the Promoter of the PPIA Gene is Associated with Susceptibility to Kawasaki Disease in Chinese Children

ABSTRACT

Background: Kawasaki disease (KD) is an acute systemic vasculitis of unknown etiology. Cyclophilin A (CypA), also known as PPIA, has been identified to play a vital role in the pathogenesis of cardiovascular or inflammatory diseases. However, no studies have examined the relationship between single-nucleotide polymorphisms (SNPs) in the peptidylprolyl isomerase A (PPIA) and the development of KD and KD with or without coronary artery lesions (CALs).

Objective: The present study was conducted to evaluate whether PPIA SNPs are associated with susceptibility to KD or CALs in KD.

Methods: Three PPIA SNPs were genotyped in 101 KD patients and 105 healthy controls from a Chinese population. The allele and genotype frequencies were compared between the case and control groups, as well as in KD patients with and without CALs.

Results: The data revealed a significant difference in the genotype and allele frequencies of rs17860041 A/C between KD patients and normal controls. Compared to the rs17860041 CC genotype, the AC genotype demonstrated a consistently beneficial roles in reducing the KD incidence. Furthermore, the allele frequency of C in the KD group was higher than that in the control group (P < .05). Haplotype analysis for PPIA polymorphisms (rs10951772 A/G, rs17860041 A/C, and rs4720485 A/T) also confirmed this association in KD patients and normal controls.

Conclusion: A PPIA promoter SNP (rs17860041 A/C) confers susceptibility to KD in Chinese children and was identified as an important marker of KD in this study.

KEYWORDS:

• Kawasaki disease
• cyclophilin A
• single-nucleotide polymorphisms
• PPIA

Author Contributions

Ruting Shi and Yeping Luo contributed equally to this work.

Conflicts of Interest

The authors declare that there are no competing interests regarding the publication of this article.

Data Availability

The data used to support the findings of this study are available from the corresponding author upon request.

Ethics Approval and Consent to Participate

The study was approved by the Ethics Review Committee and Institutional Review Board of the Third Xiangya Hospital.

Additional information

Funding

This work was supported by the New Xiangya Talent Project of the Third Xiangya Hospital of the Central South University [grant number 20150312].