Soonchunhyang Med Sci.  2016 Jun;22(1):8-15. 10.0000/sms.2016.22.1.8.

A Study of the Association between Enabled Homolog Gene Polymorphisms and Kawasaki Disease in Korean Children

• Yoo GH

• KMID: 2328772
• DOI: http://doi.org/10.0000/sms.2016.22.1.8

Abstract

OBJECTIVE
The etiology of the Kawasaki disease (KD) remains unknown despite of extensive studies but infection, immunity, and genetics were suggested as causes. There have been attempted to link susceptibility to KD to allelic variations to search related gene. The enabled homolog (Enah) gene on the human chromosome 1q42.12 encodes enabled/vasodilator-stimulated phosphoprotein (Ena/VASP). Ena/VASP is a regulator of actin cytoskeleton, exists in cytoplasm, and maintains homeostasis such as immune response, blood vessel preservation, and hemostasis. The aim of this study was to investigate polymorphisms of the Enah gene as a risk factor for KD and coronary artery lesions (CALs) as a complication.
METHODS
In the Enah gene region, 15 single nucleotide polymorphisms (SNPs) were selected using human SNP websites (http://www.hapmap.org/, genome build). Three hundred and six healthy controls and 106 KD subjects were recruited. SNP genotyping was performed using the Golden Gate assay on an Illumina BeadStation 500 GX (Illumina Inc., San Diego, CA, USA). Frequencies of allele were obtained and the genetic association between of the Enah gene polymorphisms and susceptibility to KD and CALs was analyzed by SNPstats, Haploview software ver. 4.1 (Broad Institute, Cambridge, MA, USA). Multiple logistic regression analysis with adjustment for gender was performed.
RESULTS
One SNP (rs1891000) among total fifteen SNPs was associated with KD. Moreover, we found a significant association between rs487591, rs576861, rs7555139, rs10799319, and the development of CALs in KD patients.
CONCLUSION
These results suggest that the polymorphism of Enah gene may be associated with the occurrence of KD and development of CALs as a complication.

Keyword

Mucocutaneous lymph node syndrome; Coronary artery; Enah protein; Single nucleotide polymorphism

MeSH Terms

Actin Cytoskeleton
Alleles
Blood Vessels
Child*
Chromosomes, Human
Coronary Vessels
Cytoplasm
Genetics
Genome
Hemostasis
Homeostasis
Humans
Logistic Models
Mucocutaneous Lymph Node Syndrome*
Polymorphism, Single Nucleotide
Risk Factors