The 677C>T mutation of the MTHFR gene increases the risk of venous thromboembolism in Koreans and a meta-analysis from Asian population

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis
Moon Ju JangNam Keun Kim

Abstract

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.

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Citations

Jul 22, 2015·Genetic Testing and Molecular Biomarkers·Nasir A S Al-AllawiNajat T M Al-Mzury
Apr 1, 2014·BMC Research Notes·Masharip AtadzhanovOwen A Ross
Jan 13, 2017·Journal of Korean Academy of Nursing·Wonjong Kim, Myung Haeng Hur
Nov 6, 2018·Journal of Korean Academy of Nursing·Ji Yeong Jeong, Mee Ock Gu
May 27, 2020·Journal of Nursing Management·Jeong Hun Kim, Yeoungsuk Song

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Methods Mentioned

BETA
genotyping
PCR
electrophoresis

Software Mentioned

SPSS

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