title: The C677T mutation in the methylenetetrahydrofolate reductase gene among the Indonesian Javanese population.
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.
authors.affiliation: Division of Public Health, Department of Environmental Health and Safety, Kobe University Graduate School of Medicine 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan. hamdewa@yahoo.com
authors.forename: Ahmad Hamim
authors.initials: AH
authors.lastname: Sadewa
authors.lastname: Sunarti
authors.forename: Retno
authors.initials: R
authors.lastname: Sutomo
authors.forename: Chiyo
authors.initials: C
authors.lastname: Hayashi
authors.forename: Myeong Jin
authors.initials: MJ
authors.lastname: Lee
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Ayaki
authors.forename: Abdul Salam M
authors.initials: AS
authors.lastname: Sofro
authors.forename: Masafumi
authors.initials: M
authors.lastname: Matsuo
authors.forename: Hisahide
authors.initials: H
authors.lastname: Nishio
mesh_terms: D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D016009:Chi-Square Distribution; D015331:Cohort Studies; D003327:Coronary Disease / Q000453:epidemiology / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005828:Genetics, Population; D005838:Genotype; D006801:Humans; D015994:Incidence; D007214:Indonesia / Q000453:epidemiology; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D008875:Middle Aged; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D009436:Neural Tube Defects / Q000453:epidemiology / Q000235:genetics*; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011336:Probability; D012494:Sampling Studies
chemical_list: D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)