1. The C677T mutation in the methylenetetrahydrofolate reductase gene among the Indonesian Javanese population.
- Author
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Sadewa AH, Sunarti, Sutomo R, Hayashi C, Lee MJ, Ayaki H, Sofro AS, Matsuo M, and Nishio H
- Subjects
- Adult, Alleles, Base Sequence, Chi-Square Distribution, Cohort Studies, Coronary Disease epidemiology, DNA Mutational Analysis, Female, Gene Frequency, Genetics, Population, Genotype, Humans, Incidence, Indonesia epidemiology, Male, Methylenetetrahydrofolate Reductase (NADPH2), Middle Aged, Molecular Sequence Data, Neural Tube Defects epidemiology, Polymerase Chain Reaction, Probability, Sampling Studies, Asian People genetics, Coronary Disease genetics, Genetic Predisposition to Disease, Mutation, Missense, Neural Tube Defects genetics, Oxidoreductases Acting on CH-NH Group Donors genetics
- Abstract
The presence of the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene has been regarded as a genetic risk factor for coronary artery diseases and neural tube defects. Although the prevalence of this mutation has been reported from various ethnic populations, few data concerning Indonesian populations are available. We have investigated the frequency of the mutation in 68 Indonesian Javanese (residents of Java Island) and compared it with the data from 244 Japanese (residents of Honshu Island). The frequencies of the three genotypes in Javanese were C/C 0.84, C/T 0.16 and T/T 0.00, whereas those in Japanese were C/C 0.39, C/T 0.48 and T/T 0.13. The rarity of the T/T genotype in the Indonesian Javanese population may be due to malnutrition in pregnant women, because insufficient intake of folate is considered to be a survival disadvantage for fetuses with the T/T genotype. In conclusion, homozygosity for the C677T mutation in the MTHFR gene does not constitute a genetic risk factor for coronary artery diseases and neural tube defects in the Indonesian Javanese population.
- Published
- 2002