Genetic Analysis of MMP Gene Polymorphisms in Patients With Kawasaki Disease

• Published in: Pediatric research Vol. 63; no. 2; pp. 182 - 185
• Main Authors: Ikeda, Kazuyuki, Ihara, Kenji, Yamaguchi, Kenichiro, Muneuchi, Jun, Ohno, Takuro, Mizuno, Yumi, Hara, Toshiro
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.02.2008; Lippincott Williams & Wilkins
• Subjects: Biological and medical sciences; Case-Control Studies; Child; Coronary Artery Disease - genetics; Female; General aspects; Genetic Predisposition to Disease; Genotype; Haplotypes; Humans; Linkage Disequilibrium; Male; Matrix Metalloproteinase 13 - genetics; Matrix Metalloproteinases - genetics; Matrix Metalloproteinases - physiology; Medical sciences; Medicine; Medicine & Public Health; Mucocutaneous Lymph Node Syndrome - genetics; Pediatric Surgery; Pediatrics; Polymorphism, Genetic; Polymorphism, Single Nucleotide; Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis; translational-investigation; Human; Kawasaki syndrome; Immunopathology; Pediatrics; Genetic variability; Enzyme; Autoimmune disease; Cardiovascular disease; Genotype; Patient; Metalloendopeptidases; Genetic determinism; Vascular disease; Peptidases; Vasculitis; Analysis; Systemic disease; Hydrolases; Genetics; Polymorphism
• ISSN: 0031-3998; 1530-0447
• DOI: 10.1203/PDR.0b013e31815ef224

Kawasaki disease (KD) is an acute febrile disorder characterized by systemic vasculitis primarily occurring in coronary arteries. Matrix metalloproteinases (MMPs) have been considered to play pathophysiologic roles in the development of coronary artery lesions (CALs); therefore, an evaluation of the genetic contributions of the MMP genes to the development of CALs in KD patients would be beneficial for the prediction of CAL formation. We focused on the known functional single nucleotide polymorphisms (SNPs) in the MMP genes ( MMP-2 -735C>T, MMP-3 -1612 5A/6A, MMP-9 -1562C>T, MMP-12 -82A>G, and MMP-13 -77A>G) and performed the association study between these SNPs and CAL formation in KD. The study population consisted of 44 KD patients with CALs and 92 without CALs and 175 healthy controls. As a result, allele and genotype frequencies of MMP-13 -77A>G showed significant differences between KD patients with CALs and without CALs ( p = 0.00989 and p = 0.00551, respectively). The estimated frequencies of the G-C haplotype in the MMP-13 gene promoter were significantly lower in KD patients with CALs than in those without CALs. There was no association between other MMP genes and CAL formation. In conclusion, the genetic evaluation by association study demonstrated that the MMP-13 gene, at least in part, contributed to the development of CALs in KD.