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Korean J Pediatr 2011 August;54(8) :335-339.
Polymorphisms of methylenetetrahydrofolate reductase are not a risk factor for Kawasaki disease in the Korean population
Kyung Lim Yoon (Yoon KL)1, Jin Hee Ko (Ko JH)1, Kye Shik Shim (Shim KS)1, Mi Young Han (Han MY)2, Sung Ho Cha (Cha SH)2, Su Kang Kim (Kim SK)3, Joo Ho Jung (Jung JH)3
1Department of Pediatrics, Kyung Hee University Hospital at Gangdong, Kyung Hee University School of Medicine, Seoul, Korea
2Department of Pediatrics, Kyung-Hee University Medical Center, Kyung Hee University School of Medicine, Seoul, Korea
3Department of Clinical Pharmacology, Kyung Hee University School of Medicine, Seoul, Korea
Corresponding Author: Kyung Lim Yoon ,Tel: +82-2-440-6132, Fax: +82-2-440-7175, Email:
Copyright © 2011 by The Korean Pediatric Society
Purpose : Hyperhomocysteinemia is known as a risk factor for atherosclerosis. Preclinical arteriosclerosis is noted and premature atherosclerosis is known to be accelerated in Kawasaki disease (KD) patients. Genetic polymorphisms in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene result in elevated plasma homocysteine concentrations and are known to be associated with the development of coronary artery disease. Our hypothesis is that single nucleotide polymorphisms (SNPs) of the MTHFR gene are related to the development of KD and coronary artery lesions (CALs). Methods : For this study, we selected 3 candidate single nucleotide polymorphisms (SNPs) (rs2274976, rs1801131, and rs1801133) of MTHFR . These SNPs are located on chromosome 1p36.3. We included 101 KD patients and 306 healthy adults as controls in this study. CALs were seen in 38 patients. Genotypes of the selected SNPs were determined by direct sequencing and analyzed with SNPAlyze. Results : The genetic distribution and allelic frequency of the 3 MTHFR SNPs (rs2274976, rs1801131, and rs1801133) were not significantly different in patients with KD compared to the control group (P=0.71, 0.17, and 0.96, respectively). There was no difference in the genetic distribution of the MTHFR SNPs between the normal control group and the CAL group (P=0.43, 0.39, 0.52 respectively). Conclusion : The genetic distribution of the MTHFR SNPs (rs2274976, rs1801131, and rs1801133) was not different in the KD group compared to the control group. In addition, the genetic distribution of these SNPs was not different in the CAL group compared to the control group in the Korean population.
Keywords: Hyperhomocysteinemia | Coronary artery lesion | Kawasaki disease | Methylenetetrahydrofolate reductase | Polymorphis
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Supplementary Material  Supplementary Material
Polymorphisms of tumor necrosis factor-alpha promotor gene in Kawasaki disease and relation to the risk of coronary artery lesion  2009 April;52(4)
Methylenetetrahydrofolate Reductase(MTHFR) Gene Expression in Kawasaki Disease  2004 July;47(7)
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