The C677T mutation in the methylenetetrahydrofolate reductase gene among the Indonesian Javanese population.
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.
Sadewa
Ahmad Hamim
AH
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
Sunarti
Sutomo
Retno
R
Hayashi
Chiyo
C
Lee
Myeong Jin
MJ
Ayaki
Hitoshi
H
Sofro
Abdul Salam M
AS
Matsuo
Masafumi
M
Nishio
Hisahide
H
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
D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)