Korean J Med.  1999 Jan;56(1):41-46.

A study of 5, 10 - Methylenetetrahydrofolate Reductase ( MTHFR ) polymorphism among the Korean population

• Kang MS
• Yang DH
• Choi JS
• Ha KS
• Hong SY

Abstract

Hyperhomocysteinemia has been recognized as an independent risk factor which causes atherosclerosis. The genetic mutation in MTHFR, an enzyme required for efficient homocysteine metabolism, produces a thermolabile enzyme with reduced activity. It has been suggested that thermolabile MTHFR is associated with vascular disease due to increased plasma homocysteine concentration. This study is a preliminary research for identifying the relationship between the MTHFR gene mutation and hypertensive subjects by examining the prevalence of 677 C--METHODS AND RESULTS
We examined MTHFR gene mutation, BMI, BP, lipid profile of those 312 subjects who visited the health service center of Soonchunhyang University Chunan Hospital from January to March in 1998. The respective prevalence of the homozygous and heterozygous 677 C--CONCLUSION
Our data shows that the frequency of MTHFR genotype in the Korean is similar to that of people who live in Asia(Japan), Europe(Italy, Dutch etc), and US Whites, but differ to that of people living in Africa. There is no significant relationship between the MTHFR gene mutation and essential hypertension.

Keyword

Hyperhomocysteinemia; MTHFR; Hypertension

MeSH Terms

Africa
Atherosclerosis
Chungcheongnam-do
Genotype
Health Services
Homocysteine
Humans
Hyperhomocysteinemia
Hypertension
Metabolism
Methylenetetrahydrofolate Reductase (NADPH2)*
Plasma
Prevalence
Risk Factors
Vascular Diseases
Homocysteine
Methylenetetrahydrofolate Reductase (NADPH2)