Promoter Polymorphism (rs3755724, -55C/T) of Tissue Inhibitor of Metalloproteinase 4 (TIMP4) As a Risk Factor for Kawasaki Disease with Coronary Artery Lesions in a Korean Population

Overview

Journal Pediatr Cardiol

Specialties Cardiology & Vascular Diseases
Pediatrics

Date 2008 Dec 3

PMID 19048177

Citations 9

Authors

Ju Yeon Ban

Kyung Leem Yoon

Su Kang Kim

Sungwook Kang

Joo-Ho Chung

Affiliations

Soon will be listed here.

Abstract

Kawasaki disease (KD) is an acute febrile vasculitis that predominantly affects infants and young children. Tissue inhibitors of matrix metalloproteinases (TIMPs) comprise a family of four members, of which TIMP4 is characterized by its restriction to cardiovascular structures. In KD pathophysiology, TIMP4 is considered to be involved in the development of coronary artery lesions (CALs). Therefore, this study investigated single-nucleotide polymorphisms (SNPs) of the TIMP4 gene as risk factors for KD with CALs in Korean children. To observe this association, two SNPs (rs3755724, -55C/T, promoter; rs17035945, 3'-untranslated region) were genotyped in TIMP4 using direct sequencing. There were no SNPs in the coding region of TIMP4, and two SNPs were selected in the exon and promoter regions. This study recruited 250 control and 101 KD subjects. For data analysis, SNPStats, SNPAnalyzer, and Helixtree programs were used. These SNPs were not associated with KD. However, in the recessive model, a significant association was found between rs3755724 and the development of CALs in KD (P = 0.02; odds ratio, 0.31; 95% confidence interval, 0.11-0.85). The minor allele (C) of rs3755724 showed the susceptibility of CALs to risk in KD patients. These results suggest that TIMP4 is related to the development of KD with CALs in Korean children.

Citing Articles

Association of TIMP4 gene variants with steroid-induced osteonecrosis of the femoral head in the population of northern China.

Wang J, An F, Cao Y, Gao H, Sun M, Ma C PeerJ. 2019; 7:e6270.

PMID: 30697482 PMC: 6348097. DOI: 10.7717/peerj.6270.

TIMP2 gene polymorphisms are associated with hypertension in patients with myocardial infarction.

Rodriguez-Perez J, Martinez-Rodriguez N, Vargas-Alarcon G, Vallejo M, Monroy-Munoz I, Posadas-Romero C J Genet. 2014; 93(2):517-22.

PMID: 25189251 DOI: 10.1007/s12041-014-0388-6.

TIMP-3 -1296 T>C and TIMP-4 -55 T>C gene polymorphisms play a role in the susceptibility of hepatocellular carcinoma among women.

Tsai H, Hsieh M, Chiou H, Lee H, Hsin M, Liou Y Tumour Biol. 2014; 35(9):8999-9007.

PMID: 24903383 DOI: 10.1007/s13277-014-2170-z.

The Insertion/Deletion Polymorphism of Angiotensin I Converting Enzyme Gene is Associated With Ossification of the Posterior Longitudinal Ligament in the Korean Population.

Kim D, Yun D, Kim H, Min S, Yoo S, Lee K Ann Rehabil Med. 2014; 38(1):1-5.

PMID: 24639919 PMC: 3953350. DOI: 10.5535/arm.2014.38.1.1.

Plasma clusterin concentrations may predict resistance to intravenous immunoglobulin in patients with Kawasaki disease.

Ou-Yang M, Kuo H, Lin I, Sheen J, Huang F, Chen C ScientificWorldJournal. 2013; 2013:382523.

PMID: 23956692 PMC: 3727184. DOI: 10.1155/2013/382523.

References

Jung M, Kim B, Kim Y, Koh I, Chung J . Assessment of Relationship between Fyn-related Kinase Gene Polymorphisms and Overweight/Obesity in Korean Population. Korean J Physiol Pharmacol. 2010; 12(2):83-7. PMC: 2817539. DOI: 10.4196/kjpp.2008.12.2.83. View

Baker A, Edwards D, Murphy G . Metalloproteinase inhibitors: biological actions and therapeutic opportunities. J Cell Sci. 2002; 115(Pt 19):3719-27. DOI: 10.1242/jcs.00063. View

Newburger J, Takahashi M, Gerber M, Gewitz M, Tani L, Burns J . Diagnosis, treatment, and long-term management of Kawasaki disease: a statement for health professionals from the Committee on Rheumatic Fever, Endocarditis and Kawasaki Disease, Council on Cardiovascular Disease in the Young, American Heart.... Circulation. 2004; 110(17):2747-71. DOI: 10.1161/01.CIR.0000145143.19711.78. View

Rahkonen O, Koskivirta I, Oksjoki S, Jokinen E, Vuorio E . Characterization of the murine Timp4 gene, localization within intron 5 of the synapsin 2 gene and tissue distribution of the mRNA. Biochim Biophys Acta. 2002; 1577(1):45-52. DOI: 10.1016/s0167-4781(02)00404-9. View

Ikeda K, Ihara K, Yamaguchi K, Muneuchi J, Ohno T, Mizuno Y . Genetic analysis of MMP gene polymorphisms in patients with Kawasaki disease. Pediatr Res. 2007; 63(2):182-5. DOI: 10.1203/PDR.0b013e31815ef224. View

Baer A, Rubin L, Shapiro C, Sood S, Rajan S, Shapir Y . Prevalence of coronary artery lesions on the initial echocardiogram in Kawasaki syndrome. Arch Pediatr Adolesc Med. 2006; 160(7):686-90. DOI: 10.1001/archpedi.160.7.686. View

Peng Q, Zhou T, Chen C, Hua Y, Liu H, Hong H . [Clinical value of serum matrix metalloproteinase-9 and tissue inhibitor of metalloproteinase-1 for the prediction and early diagnosis of coronary artery lesion in patients with Kawasaki disease]. Zhonghua Er Ke Za Zhi. 2005; 43(9):676-80. View

Takeshita S, Tokutomi T, Kawase H, Nakatani K, Tsujimoto H, Kawamura Y . Elevated serum levels of matrix metalloproteinase-9 (MMP-9) in Kawasaki disease. Clin Exp Immunol. 2001; 125(2):340-4. PMC: 1906124. DOI: 10.1046/j.1365-2249.2001.01608.x. View

Matsuyama T . Tissue inhibitor of metalloproteinases-1 and matrix metalloproteinase-3 in Japanese healthy children and in Kawasaki disease and their clinical usefulness in juvenile rheumatoid arthritis. Pediatr Int. 1999; 41(3):239-45. DOI: 10.1046/j.1442-200x.1999.01061.x. View

10.

Koskivirta I, Rahkonen O, Mayranpaa M, Pakkanen S, Husheem M, Sainio A . Tissue inhibitor of metalloproteinases 4 (TIMP4) is involved in inflammatory processes of human cardiovascular pathology. Histochem Cell Biol. 2006; 126(3):335-42. DOI: 10.1007/s00418-006-0163-8. View

11.

Park J, Shin K, Kim Y . Polymorphism of matrix metalloproteinase-3 promoter gene as a risk factor for coronary artery lesions in Kawasaki disease. J Korean Med Sci. 2005; 20(4):607-11. PMC: 2782156. DOI: 10.3346/jkms.2005.20.4.607. View

12.

Ogawa S . [Biochemical and immunological laboratory findings in Kawasaki disease]. Nihon Rinsho. 2008; 66(2):315-20. View

13.

Barrett J, Fry B, Maller J, Daly M . Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics. 2004; 21(2):263-5. DOI: 10.1093/bioinformatics/bth457. View

14.

Senzaki H, Masutani S, Kobayashi J, Kobayashi T, Nakano H, Nagasaka H . Circulating matrix metalloproteinases and their inhibitors in patients with Kawasaki disease. Circulation. 2001; 104(8):860-3. DOI: 10.1161/hc3301.095286. View

15.

Nagase H, Woessner Jr J . Matrix metalloproteinases. J Biol Chem. 1999; 274(31):21491-4. DOI: 10.1074/jbc.274.31.21491. View

16.

Sole X, Guino E, Valls J, Iniesta R, Moreno V . SNPStats: a web tool for the analysis of association studies. Bioinformatics. 2006; 22(15):1928-9. DOI: 10.1093/bioinformatics/btl268. View

17.

Matsubara T, Furukawa S, YABUTA K . Serum levels of tumor necrosis factor, interleukin 2 receptor, and interferon-gamma in Kawasaki disease involved coronary-artery lesions. Clin Immunol Immunopathol. 1990; 56(1):29-36. DOI: 10.1016/0090-1229(90)90166-n. View

18.

Abe J . [Immunological aspects of Kawasaki disease]. Nihon Rinsho. 2008; 66(2):267-71. View

19.

Chua P, Melish M, Yu Q, Yanagihara R, Yamamoto K, Nerurkar V . Elevated levels of matrix metalloproteinase 9 and tissue inhibitor of metalloproteinase 1 during the acute phase of Kawasaki disease. Clin Diagn Lab Immunol. 2003; 10(2):308-14. PMC: 150536. DOI: 10.1128/cdli.10.2.308-314.2003. View

20.

Egeblad M, Werb Z . New functions for the matrix metalloproteinases in cancer progression. Nat Rev Cancer. 2002; 2(3):161-74. DOI: 10.1038/nrc745. View