rs1801133, MTHFR

N. diseases: 174
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Homocysteine measurement
CUI: C2242817
Disease: Homocysteine measurement
0.800 GeneticVariation GWASCAT The 5,10-methylenetetrahydrofolate reductase (MTHFR) 677C→T (rs1801133) variant was the major genetic modifier of all 3 folate-related biomarkers in this Irish population and reached genome-wide significance for red blood cell folate (P = 1.37 × 10-17), serum folate (P = 2.82 × 10-11), and plasma total homocysteine (P = 1.26 × 10-19) concentrations. 30339177 2018
Homocysteine measurement
CUI: C2242817
Disease: Homocysteine measurement
0.800 GeneticVariation GWASCAT Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation. 23696881 2013
Homocysteine measurement
CUI: C2242817
Disease: Homocysteine measurement
0.800 GeneticVariation GWASCAT Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease. 23824729 2013
Homocysteine measurement
CUI: C2242817
Disease: Homocysteine measurement
0.800 GeneticVariation GWASDB Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation. 23696881 2013
Homocysteine measurement
CUI: C2242817
Disease: Homocysteine measurement
0.800 GeneticVariation GWASDB Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease. 23824729 2013
Homocysteine measurement
CUI: C2242817
Disease: Homocysteine measurement
0.800 GeneticVariation GWASDB Novel associations of CPS1, MUT, NOX4, and DPEP1 with plasma homocysteine in a healthy population: a genome-wide evaluation of 13 974 participants in the Women's Genome Health Study. 20031578 2009
Homocysteine measurement
CUI: C2242817
Disease: Homocysteine measurement
0.800 GeneticVariation GWASCAT Novel associations of CPS1, MUT, NOX4, and DPEP1 with plasma homocysteine in a healthy population: a genome-wide evaluation of 13 974 participants in the Women's Genome Health Study. 20031578 2009
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
0.760 GeneticVariation BEFREE The common mutations found to be associated with schizophrenia and MTHFR are A222V, E429A, and R594Q. 28427558 2017
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
0.760 GeneticVariation BEFREE The investigation of the catechol-O-methyltransferase (COMT-[rs4680]) and methylenetetrahydrofolate reductase (MTHFR-[rs1801133]) polymorphisms' interaction might shed light into the pathogenetic mechanisms of the cognitive dysfunction in schizophrenia. 23353103 2013
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
0.760 GeneticVariation BEFREE To gain insight into the neural and molecular mechanisms of error processing, we used functional MRI to examine effects of a genetic variant in methylenetetrahydrofolate reductase (MTHFR 677C>T, rs1801133) that increases risk for schizophrenia and that has been specifically associated with increased perseverative errors among patients. 21980405 2011
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
0.760 GeneticVariation GWASDB Genome-wide association study identifies a susceptibility locus for schizophrenia in Han Chinese at 11p11.2. 22037552 2011
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
0.760 GeneticVariation BEFREE However, since our meta-analysis results demonstrated strong support for association of rs1801133 with schizophrenia, further replication studies based on a gene-wide approach need to be considered. 20692813 2010
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
0.760 GeneticVariation BEFREE Among the Scandinavian patients the functional MTHFR SNP rs1801133 (C677T) significantly affected age at onset of schizophrenia in a dose-dependent manner (P = 0.0015), with lower age of onset with increasing numbers of the mutant T-allele. 19746410 2010
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
0.760 GeneticVariation BEFREE A second polymorphism, methylenetetrahydrofolate reductase (MTHFR) 677C --> T (rs1801133), has been associated with overall schizophrenia risk and executive function impairment in patients, and may influence dopamine signaling through mechanisms upstream of COMT effects. 18988738 2008
RDW - Red blood cell distribution width result
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
Red cell distribution width determination
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
Folic acid measurement
CUI: C0523631
Disease: Folic acid measurement
0.700 GeneticVariation GWASCAT We validated that rs1801133 in MTHFR was significantly involved in serum folate (P = 4.21 × 10<sup>-19</sup>). 29953918 2018
Folic acid measurement
CUI: C0523631
Disease: Folic acid measurement
0.700 GeneticVariation GWASCAT The 5,10-methylenetetrahydrofolate reductase (MTHFR) 677C→T (rs1801133) variant was the major genetic modifier of all 3 folate-related biomarkers in this Irish population and reached genome-wide significance for red blood cell folate (P = 1.37 × 10-17), serum folate (P = 2.82 × 10-11), and plasma total homocysteine (P = 1.26 × 10-19) concentrations. 30339177 2018
VITAMIN B12 MEASUREMENT
CUI: C0202252
Disease: VITAMIN B12 MEASUREMENT
0.700 GeneticVariation GWASDB Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations. 19303062 2009
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE In conclusion, the present meta-analysis indicated that MTRR rs1801394, MTR rs1805087, and MTHFR rs1801133 polymorphisms could be used to identify individuals at high risk of developing BC. 31549463 2020
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.100 GeneticVariation BEFREE In conclusion, the present meta-analysis indicated that MTRR rs1801394, MTR rs1805087, and MTHFR rs1801133 polymorphisms could be used to identify individuals at high risk of developing BC. 31549463 2020
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.100 GeneticVariation BEFREE The MTHFR rs1801133 polymorphism was not associated with the prognosis of patients with CRC; however, rs1801131 may be associated with the prognosis of patients with CRC. 31330573 2019
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.100 GeneticVariation BEFREE Evaluation of the two polymorphisms rs1801133 in MTHFR and rs10811661 in CDKN2A/B in breast cancer. 30362613 2018
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Evaluation of the two polymorphisms rs1801133 in MTHFR and rs10811661 in CDKN2A/B in breast cancer. 30362613 2018
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.100 GeneticVariation BEFREE MTHFR rs1801133 T allele serves as a predictive marker for CRC risk and future studies with larger samples and functional evaluation are warranted to validate the current findings. 29599316 2018