rs1217691063, MTHFR

N. diseases: 614
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
0.100 GeneticVariation BEFREE Heterozygous and homozygous factor V G1691A, factor II G20210A, and homozygous MTHFR C677T were found to be independent risk factors for VTE, with odds ratios of 16.3, 3.6, and 2.1, respectively. 10073951 1999
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
0.100 GeneticVariation BEFREE Genotyping for mutations that are possible causes of moderate hyperhomocysteinemia, such as the thermolabile variant (C677T) of methylenetetrahydrofolate reductase (MTHFR), does not seem useful to identify individuals at higher risk for venous thromboembolism. 11011848 2000
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
0.100 GeneticVariation BEFREE The C677T polymorphism of the 5, 10-methylenetetrahydrofolate reductase (MTHFR) gene has been postulated to be a genetic risk factor for venous thromboembolism and osteonecrosis in Caucasians, but this relationship has not been established in other populations. 20229089 2010
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
0.100 GeneticVariation BEFREE Prothrombin 20210 G-->A, MTHFR C677T mutations in women with venous thromboembolism associated with pregnancy. 10759281 2000
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
0.100 GeneticVariation BEFREE Factor V leiden G1691A/R506Q (FVL), prothrombin G20210A (FII) and methylenetetrahydrofolate reductase (MTHFR) C677T are related genetic risk factors for venous thromboembolism. 22528331 2012
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
0.100 GeneticVariation BEFREE Fasting total homocysteine (tHcy) and the methylenetetrahydrofolate reductase (MTHFR) C677T mutation were evaluated in 91 patients with venous thromboembolism and without acquired thrombophilia, and in 91 age-matched and sex-matched controls. 11943942 2002
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
0.100 GeneticVariation BEFREE Factor V Leiden (Factor V G1691A), prothrombin gene mutation G20210A, and homozygous C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene are known to predispose venous thromboembolism (VTE). 19520679 2010
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
0.100 GeneticVariation BEFREE Elevated plasma homocysteine (tHcy) and the MTHFR c.677C>T variant have been postulated to increase the risk of venous thromboembolism (VTE), although mechanisms and implications to pediatrics remain incompletely understood. 23866722 2013
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
0.100 GeneticVariation BEFREE Role of soluble P-selectin and methylenetetrahydrofolate reductase gene polymorphisms (677C>T) in Egyptian patients with venous thromboembolism. 22688557 2012
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
0.100 GeneticVariation BEFREE We performed a prospective study to evaluate the prevalence and clinical significance of four gene variations (factor V Leiden [FVL], factor II G20210A, factor XIII Val34Leu and MTHFR C677T) in cancer patients, with and without VTE. 12757770 2003
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
0.100 GeneticVariation BEFREE Insofar as the inherited prothrombotic single nucleotide polymorphisms (SNPs) factor V G1691A (FV-Leiden), prothrombin (PRT) G20210A, and methylenetetrahydrofolate reductase (MTHFR), C677T are inherited risk factors of venous thromboembolism (VTE), the aim of this study was to determine the prevalence of single and combined SNPs in 198 patients with documented deep venous thrombosis (DVT), and 697 control subjects, and to estimate the associated risks. 16082606 2005
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
0.100 GeneticVariation BEFREE Factor V G1691A (Leiden), prothrombin G20210A, and methylenetetrahydrofolate reductase (MTHFR) C677T mutations are considered risk factors for venous thromboembolism. 15886665 2005
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
0.100 GeneticVariation BEFREE No significant association with VTE was found for homozygous C677T MTHFR (OR: 1.38; 95 % confidence intervals [CI]: 0.98-1.93), whereas the risk was increased in carriers of either heterozygous FVL or PT20210 (OR = 4.22; 95 % CI: 3.35-5.32; and OR = 2.79;95 % CI: 2.25-3.46, respectively), in double heterozygotes (OR = 3.42; 95 %CI 1.64-7.13), and in homozygous FVL or PT20210A (OR = 11.45; 95 %CI: 6.79-19.29; and OR: 6.74 (CI 95 % 2.19-20.72), respectively). 23900608 2013
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
0.100 GeneticVariation BEFREE To clarify the contribution of C677T MTHFR mutation in arterial occlusive disease (AOD) or venous thromboembolism (VTE), we performed a case-controlled study including 160 cases with AOD and 180 cases with VTE attending our referral center and compared them with 200 matched healthy controls. 10477457 1999
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
0.100 GeneticVariation BEFREE Single point mutations in the genes coding for factor V [G1691A; Leiden], prothrombin [PRT; G20210A], and methylenetetrahydrofolate reductase [MTHFR, C677T] were shown to be major inherited predisposing factors for venous thromboembolism. 15353918 2004
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
0.100 GeneticVariation BEFREE Thus, frequencies of FV G1691A, PT G20210A, and MTHFR C677T mutations are higher in patients with VTE. 21078611 2012
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
0.100 GeneticVariation BEFREE Methylenetetrahydrofolate reductase (MTHFR) C677T single nucleotide polymorphism is a major inherited risk factor of venous thromboembolism. 23749065 2013
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
0.100 GeneticVariation BEFREE We conclude that screening for the C677T mutation of the methylenetetrahydrofolate reductase gene should not be recommended in unselected patients with VT. 9217179 1997
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
0.100 GeneticVariation BEFREE This study suggests that the homozygous C677T mutation in the MTHFR gene might be a risk factor of VTE in patients with spontaneous events and without other common genetic risk factors. 11124649 2000
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
0.100 GeneticVariation BEFREE The findings from our meta-analysis support the associations of MTHFR C677T polymorphism with VTE risk in the Chinese population. 25149317 2015
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
0.100 GeneticVariation BEFREE In contrast, factor V Leiden, the G20210A prothrombin gene mutation, and the C677T MTHFR gene mutation are not genetic risk factors among Thai patients with VTE. 18192106 2007
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
0.100 GeneticVariation BEFREE In the present study, we have focused on the prevalence of methylenetetrahydrofolate reductase (MTHFR) C677T, dihydrofolate reductase (DHFR) 19-bp deletion within intron 1, factor V Leiden (FVL), and prothrombin (PT) G20210A polymorphisms in cancer patients with and without VTE. 18682947 2009
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
0.100 GeneticVariation BEFREE The C677T MTHFR polymorphism is suggested to be associated with the risk for VTE. 22992862 2012
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
0.100 GeneticVariation BEFREE The C677T mutation of the methylenetetrahydrofolate reductase gene, which may lead to hyperhomocysteinemia, is also considered a risk factor for VTE in some studies. 17401546 2007
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
0.100 GeneticVariation BEFREE MTHFR C677T had no association with VTE risk in pregnancy (ORG 1.24; 95% CI 0.88-1.73). 26115054 2015