The 677C>T mutation of the MTHFR gene increases the risk of venous thromboembolism in Koreans and a meta-analysis from Asian population.
The frequency of methylenetetrahydrofolate reductase (MTHFR) mutations varies between racial and ethnic groups, and there are also conflicting data regarding MTHFR gene mutations in Asian patients with venous thromboembolism (VTE). The aim of this study was to examine the association between common MTHFR gene mutations (677C>T and 1298A>C) and risk of VTE in Koreans. This study was a retrospective case-control study. We enrolled 203 patients with VTE and 403 controls. For the 677C>T polymorphism, there was no difference in the frequency of the CT genotype and TT genotype between the patients with VTE and the controls. However, in the recessive analysis (CC + CT vs TT), the frequency of the TT genotype was significantly higher in VTE than in controls (odds ratio = 1.700; 95% confidence interval = 1.108-2.607, P = .015). In conclusion, the TT genotype of MTHFR 677C>T increases the risk of VTE in Koreans. This finding was supported by meta-analysis of previous Asian studies.
Department of Internal Medicine, School of Medicine, CHA University, Seongnam, Korea.
Moon Ju
MJ
Jang
Young Joo
YJ
Jeon
Won-Il
WI
Choi
Yi Seul
YS
Choi
Su Yeoun
SY
Kim
So Young
SY
Chong
Doyeun
D
Oh
Nam Keun
NK
Kim
D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D012306:Risk; D054556:Venous Thromboembolism / Q000209:etiology / Q000235:genetics*
C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)