rs1217691063, MTHFR

N. diseases: 614
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cervix carcinoma
CUI: C0302592
Disease: Cervix carcinoma
0.100 GeneticVariation BEFREE In the present study, we have examined a large study population to determine whether the C677T polymorphism at the MTHFR locus affects susceptibility for cervical cancer or its precursor, cervical intraepithelial neoplasia (CIN). 15635481 2005
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE To study the relation between genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR) C677T or A1298C and the susceptibility of colorectal cancer. 18712959 2009
Vascular Diseases
CUI: C0042373
Disease: Vascular Diseases
0.100 GeneticVariation BEFREE We found raised median tHcy levels in all patient groups vs. controls (p < 0.05), with odds ratios (95% CI) for vascular disease among patients with HHcy (defined as > 15 micromol/l) of 3.9 (0.6 - 14.3), 4.8 (1.2 - 18.8) and 15.8 (2.8 - 87.3) respectively. tHcy levels were a function of MTHFR C677T genotype, and all patients with tHcy levels > 30 micromol/l had the MTHFR C677T homozygous substitution. 14698652 2003
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE To evaluate the genetic polymorphism of MTHFR C677T among β-TM patients and its prospective contribution to Hhcy and related oxidative changes. 27187171 2016
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.100 GeneticVariation BEFREE The MTHFR C677T polymorphism and prostate cancer risk: new findings from a meta-analysis of 7306 cases and 8062 controls. 22938427 2012
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.100 GeneticVariation BEFREE Our data fail to support a relationship between MTHFR C677T and the risk for breast cancer. 16134079 2007
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.100 GeneticVariation BEFREE This may be associated with the T/T genotype in the MTHFR gene; however, the distribution of the MTHRF C677T polymorphism in the Polish population does not differ in AD and controls. 12784029 2003
Complete Trisomy 21 Syndrome
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
0.100 GeneticVariation BEFREE The pooled OR was estimated under five genetic models and significant association was found between maternal MTHFR 677C>T polymorphism and Down syndrome under four genetic models except recessive model (for T vs. C, OR = 1.26, 95% CI = 1.09-1.46, p = 0.001; for TT vs. CC, OR = 1.49, 95% CI = 1.13-1.97, p = 0.008; for CT vs. CC, OR = 1.29, 95% CI = 1.10-1.51, p = 0.001; for TT+CT vs. CC, OR = 1.35, 95% CI = 1.13-1.60, p = 0.0008; for TT vs. CT+CC, OR = 0.76, 95% CI = 0.60-0.94, p = 0.01). 25265565 2014
Thrombophilia
CUI: C0398623
Disease: Thrombophilia
0.100 GeneticVariation BEFREE Common C677T polymorphism in the methylenetetrahydrofolate reductase gene increases the risk for deep vein thrombosis in patients with predisposition of thrombophilia. 10706928 2000
Neural Tube Defects
CUI: C0027794
Disease: Neural Tube Defects
0.100 GeneticVariation BEFREE Homozygosity for the thermolabile variant of 5,10-methylene tetrahydrofolate reductase (C677T) has been suggested to be positively associated with the risk of vascular disease and neural tube defects. 17010581 2007
Folic Acid Deficiency
CUI: C0016412
Disease: Folic Acid Deficiency
0.100 GeneticVariation BEFREE This computational model shows that de novo dTMP synthesis is highly sensitive to the common MTHFR C677T polymorphism and that the effect of the polymorphism on FOCM is greater in folate deficiency. 28400561 2017
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.100 GeneticVariation BEFREE We investigated the prevalence of MTHFR C677T and prothrombin G20210A genotypes by polymerase chain reaction (PCR) followed by restriction enzyme digestion in 420 Chinese subjects: 53 with deep venous thrombosis (DVT); 145 with cerebrovascular disease [115 cerebral infarction, 30 cerebral haemorrhage (CH)]; 100 with coronary artery disease (CAD); and 122 control subjects. 10929044 2000
Adenoma of large intestine
CUI: C1302401
Disease: Adenoma of large intestine
0.100 GeneticVariation BEFREE No evidence of association of C677T (4,616 patients and 6,338 controls) and A1298C (1,272 patients and 1,684 controls) with colorectal adenoma were found. 17089070 2007
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.100 GeneticVariation BEFREE In summary, during this meta-analysis, we found that MTHFR C677T polymorphism was significantly associated with breast cancer risk in the Chinese population. 24078451 2014
Male infertility
CUI: C0021364
Disease: Male infertility
0.100 GeneticVariation BEFREE Methylenetetrahydrofolate reductase gene (MTHFR C677T and A1298C) and methionine synthase gene (MS A2756G) polymorphisms have shown an association with male infertility risk in several ethnic populations. 28081209 2017
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
0.100 GeneticVariation BEFREE We have analyzed the MTHFR C677T polymorphism in 52 patients and 88 control individuals, all ethnic Greek residents of northern Greece, and examined the association of this polymorphism with (a) susceptibility to childhood ALL and (b) the distribution of average plasma alanine aminotransferase (ALT) levels, white blood cell counts (WBC), and hemoglobin levels (Hb) during the induction and consolidation phases of treatment. 16123993 2006
Mental Depression
CUI: C0011570
Disease: Mental Depression
0.100 GeneticVariation BEFREE To investigate the modifying effects of two candidate genes (serotonin transporter gene linked promoter region (5-HTTLPR) and methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms) on the associations between general somatic morbidity and incidence of depression in an East Asian population with high frequencies of potential risk alleles. 19251870 2009
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.100 GeneticVariation BEFREE The merits of two techniques, molecular beacon and amplification effect of enzymatic color, are successfully combined, and the technique is simple, sensitive and specific, to detect and compare the methylenetetrahydrofolate reductase (MTHFR) Gene C677T mutation of subjects between coronary heart disease (CHD) and control group. 21802936 2011
Obesity
CUI: C0028754
Disease: Obesity
0.100 GeneticVariation BEFREE DNA was extracted from the whole blood of 192 natural postmenopausal women (40 to 65 years) screened for the METS and tested for three gene SNPs related to obesity: the fat mass obesity (FTO: rs9939609) and the methylenetetrahydrofolate reductase (MTHFR: C677T and A1298C). 26902996 2016
Esophageal Neoplasms
CUI: C0014859
Disease: Esophageal Neoplasms
0.100 GeneticVariation BEFREE We conducted a meta-analysis to investigate the association of MTHFR C677T and folate intake with esophageal cancer risk. 23534726 2013
Stomach Carcinoma
CUI: C0699791
Disease: Stomach Carcinoma
0.100 GeneticVariation BEFREE The MTHFR C677T frequencies of CC, CT, and TT genotypes were 35.2%, 47.5%, and 17.3% among stomach cancer, 34%, 50.5%, and 15.5% in colorectal cancer, and 31.8%, 50.7%, and 17.5% in the controls, respectively. 20504332 2010
Migraine Disorders
CUI: C0149931
Disease: Migraine Disorders
0.100 GeneticVariation BEFREE In adult studies the MTHFR C677T polymorphism has been associated with an increased risk of migraine, but little research has been done in this area in children. 30170616 2018
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE The thermolabile variant of methylene-tetrahydrofolate reductase (MTHFR), c.677C>T, is one of the most common genetic condition, which has been associated with mild to moderate hyperhomocysteinemia, and carriers of this variant are at increased risk of an early-onset stroke-like episode. 23526309 2013
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.100 GeneticVariation BEFREE To observe the association of MTHFR gene C677T locus polymorphism with occurrence of congenital heart defects (CHDs), 21 patients with atrial septal defect (ASD), 35 patients with patent ductus arteriosus (PDA), one patient with both conditions combined, and their biological parents were collected as the case group. 16373366 2006
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.100 GeneticVariation BEFREE Additionally, more high-quality studies and that the covariates responsible for heterogeneity should be controlled to obtain a more conclusive response about the function of MTHFR C677T in cancer. 24744129 2014