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

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.

SUBMITTER: Yoon KL

PROVIDER: S-EPMC3212703 | biostudies-literature | 2011 Aug

REPOSITORIES: biostudies-literature

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

Yoon Kyung Lim KL Ko Jin Hee JH Shim Kye Shik KS Han Mi Young MY Cha Sung Ho SH Kim Su Kang SK Jung Joo Ho JH

Korean journal of pediatrics 20110831 8

<h4>Purpose</h4>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 ...[more]

PMID: 22087200

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Project description:BackgroundCongenital heart disease (CHD), which involve congenital cardiovascular malformations that occur during an embryo stage, may be the result of a complex interaction between genetic factors and environmental factors. The homozygous 677 T/T MTHFR gene and potential factors have been associated with CHD. Our objective was to study associations between potential environmental risk factors and methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms in CHD.MethodsA total of 346 children with CHD and 237 healthy children were recruited. Their parents were also enlisted in the study and interviewed face-to-face to identify potential environmental risk factors. The MTHFR genotype was analyzed by restriction fragment length polymorphism (RFLP). Interactions between environmental risk factors and MTHFR gene polymorphisms were evaluated by the relative excess risk due to interaction (RERI), the attributable proportion due to interaction (AP), and the synergy index (S).ResultsThere were significant differences in the occupational statuses of the mothers and their levels of drug exposure during gestation between the controls and the cases (P<0.05). These differences significantly increased offspring CHD risk (occupation: OR =5.45, 95% CI: 3.46-8.58; drug exposure: OR =4.91, 95% CI: 2.18-11.09). The frequency of the MTHFR gene 677 TT polymorphism in the mothers who had offspring with CHD was significantly different from that in the non-CHD controls (P<0.05). The frequency of this polymorphism also significantly differed between the children with CHD and the control group (P<0.05). An interaction was identified between the presence of the homozygous 677 TT genotype in the children and the mothers' occupational statuses (RERI =9.43, CI: 0.06-18.91).ConclusionsA significant interaction was found between the homozygous 677 T/T MTHFR gene in children and the maternal occupational status and level of drug exposure during gestation. Avoiding or reducing the exposure of the risk factors mentioned above, strengthening pre-pregnancy checkups and guidance might help to reduce the risk of CHD.

Dataset Information

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

Publications

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

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