Abstract

Methylenetetrahydrofolate reductase (MTHFR) is a major enzyme in the metabolism of folate. Several studies have shown the relationship between the MTHFR gene and obesity. In this study, we investigated whether single nucleotide polymorphisms (SNPs) of the MTHFR gene were associated with obesity in Korean population. One hundred twenty two overweight/obese and 125 control subjects were recruited. Two SNPs (rs3737965, -336 C/T and rs1801131, Glu429Ala) of the MTHFR gene were selected, and genotypes of these two SNPs were determined using direct sequencing. SNPStats, SPSS 18.0, and Haploview 4.2 softwares were used to analyze genetic data. Multiple logistic regression models (codominant1, codominant2, dominant, recessive, overdominant, and log-additive) were conducted for odds ratio (OR), 95% confidence interval (CI), and p value. For the defined results, p values were recalculated by Bonferroni correction (p^c). After Bonferroni correction, allele distributions of one promoter SNP (rs3737965) showed significant association with overweight/obese (OR=2.27, 95% CI=1.14∼4.51, p^c=0.038). The T allele frequency of rs3737965 in the overweight/obese group (11.1%) was higher than that in the control group (5.2%). These results indicate that the MTHFR gene may be associated with obesity in Korean population. (Korean J Str Res 2011;19:237∼242)

• Keywords: Methylenetetrahydrofolate reductase, Obesity, Overweight, Single nucleotide polymorphism ;;