Korean J Pediatr.  2011 Aug;54(8):335-339. 10.3345/kjp.2011.54.8.335.

Polymorphisms of methylenetetrahydrofolate reductase are not a risk factor for Kawasaki disease in the Korean population

• Yoon KL
• Ko JH
• Shim KS
• Han MY
• Cha SH
• Kim SK
• Jung JH

• KMID: 2284328
• DOI: http://doi.org/10.3345/kjp.2011.54.8.335

Abstract

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.

Keyword

Hyperhomocysteinemia; Coronary artery lesion; Kawasaki disease; Methylenetetrahydrofolate reductase; Polymorphism

MeSH Terms

Adult
Arteriosclerosis
Atherosclerosis
Coronary Artery Disease
Coronary Vessels
Genotype
Homocysteine
Humans
Hyperhomocysteinemia
Methylenetetrahydrofolate Reductase (NADPH2)
Mucocutaneous Lymph Node Syndrome
Oxidoreductases
Plasma
Polymorphism, Genetic
Polymorphism, Single Nucleotide
Risk Factors
Tetrahydrofolates
Homocysteine
Methylenetetrahydrofolate Reductase (NADPH2)
Oxidoreductases
Tetrahydrofolates