Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10380
rs10380
Entrez Id: 4552
Gene Symbol: MTRR
MTRR
CUI: C0030567
Disease:
Parkinson Disease
0.010 GeneticVariation BEFREE Furthermore, we stratified our patients based on the MTHFR 677TT genotype in different strata, a significant association between the joint effect of polymorphisms and PD risk was observed in those patients whose genotypes were MTRR A1049G/MTR A2756G or MTRR C1783T/MTR A2756G (P<0.05). 21070756 2011
dbSNP: rs10380
rs10380
Entrez Id: 4552
Gene Symbol: MTRR
MTRR
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE We found three single-nucleotide polymorphisms in those genes associated with LINE-1 methylation: SLC19A1 (rs1051266); MTRR (rs10380) and MTHFR (rs1537514), one of which was also associated with breast cancer risk: MTHFR (rs1537514). 24130171 2014
dbSNP: rs10380
rs10380
Entrez Id: 4552
Gene Symbol: MTRR
MTRR
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE We found three single-nucleotide polymorphisms in those genes associated with LINE-1 methylation: SLC19A1 (rs1051266); MTRR (rs10380) and MTHFR (rs1537514), one of which was also associated with breast cancer risk: MTHFR (rs1537514). 24130171 2014
dbSNP: rs10380
rs10380
Entrez Id: 4552
Gene Symbol: MTRR
MTRR
CUI: C0080178
Disease:
Spina Bifida
0.010 GeneticVariation BEFREE With respect to spina bifida, we observed ORs with 95% confidence intervals that did not include 1.0 for the following SNPs (heterozygous or homozygous) relative to the reference genotype: BHMT (rs3733890) OR = 1.8 (1.1-3.1), CBS (rs2851391) OR = 2.0 (1.2-3.1); CBS (rs234713) OR = 2.9 (1.3-6.7); MTHFD1 (rs2236224) OR = 1.7 (1.1-2.7); MTHFD1 (hcv11462908) OR = 0.2 (0-0.9); MTHFD2 (rs702465) OR = 0.6 (0.4-0.9); MTHFD2 (rs7571842) OR = 0.6 (0.4-0.9); MTHFR (rs1801133) OR = 2.0 (1.2-3.1); MTRR (rs162036) OR = 3.0 (1.5-5.9); MTRR (rs10380) OR = 3.4 (1.6-7.1); MTRR (rs1801394) OR = 0.7 (0.5-0.9); MTRR (rs9332) OR = 2.7 (1.3-5.3); TYMS (rs2847149) OR = 2.2 (1.4-3.5); TYMS (rs1001761) OR = 2.4 (1.5-3.8); and TYMS (rs502396) OR = 2.1 (1.3-3.3). 19493349 2009
dbSNP: rs10380
rs10380
Entrez Id: 4552
Gene Symbol: MTRR
MTRR
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.010 GeneticVariation BEFREE In the present study, we have assessed the association of six polymorphisms and relative haplotypes in the MTHFR gene (rs1801133 and rs1801131) and in the MTRR gene (rs1801394, rs1532268, rs162036, and rs10380) with the risk for colorectal cancer in 666 patients and 1377 controls from the Czech Republic. 21211571 2011
dbSNP: rs10380
rs10380
Entrez Id: 4552
Gene Symbol: MTRR
MTRR
CUI: C0009402
Disease:
Colorectal Carcinoma
0.010 GeneticVariation BEFREE In the present study, we have assessed the association of six polymorphisms and relative haplotypes in the MTHFR gene (rs1801133 and rs1801131) and in the MTRR gene (rs1801394, rs1532268, rs162036, and rs10380) with the risk for colorectal cancer in 666 patients and 1377 controls from the Czech Republic. 21211571 2011
dbSNP: rs1211098985
rs1211098985
Entrez Id: 4552
Gene Symbol: MTRR
MTRR
CUI: C0242339
Disease:
Dyslipidemias
0.010 GeneticVariation BEFREE Patients with high Hcy and MTHFR 667CC, as well as those with low Hcy and 667CT+TT, showed lower odds of uncontrolled SBP (MTHFR 667CC+ high Hcy: OR: 0.338, 95% CI: 0.115-0.996, Pcombined = 0.049; MTHFR 667CT/TT+ low Hcy: OR: 0.421, 95% CI: 0.193-0.921, Pcombined = 0.030) compared to patients with low Hcy and MTHFR 667CC.<b>Conclusions</b>: Serum Hcy status and Hcy metabolism gene polymorphisms (MTHFR C667T and MTRR A66G) may have synergistic effects on the prevalence of HTN and dyslipidemia. 30786773 2020
dbSNP: rs1211098985
rs1211098985
Entrez Id: 4552
Gene Symbol: MTRR
MTRR
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck
0.010 GeneticVariation BEFREE None of the polymorphisms showed any significant impact on HNSCC risk by genotype alone, but we found interactions between drinking habit and MTHFR C667T (P = 0.04), MTR A2756G (P = 0.04) and MTRR A66G (P = 0.03) polymorphisms. 17596206 2007
dbSNP: rs1211098985
rs1211098985
Entrez Id: 4552
Gene Symbol: MTRR
MTRR
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE Patients with high Hcy and MTHFR 667CC, as well as those with low Hcy and 667CT+TT, showed lower odds of uncontrolled SBP (MTHFR 667CC+ high Hcy: OR: 0.338, 95% CI: 0.115-0.996, Pcombined = 0.049; MTHFR 667CT/TT+ low Hcy: OR: 0.421, 95% CI: 0.193-0.921, Pcombined = 0.030) compared to patients with low Hcy and MTHFR 667CC.<b>Conclusions</b>: Serum Hcy status and Hcy metabolism gene polymorphisms (MTHFR C667T and MTRR A66G) may have synergistic effects on the prevalence of HTN and dyslipidemia. 30786773 2020
dbSNP: rs137853061
rs137853061
Entrez Id: 4552
Gene Symbol: MTRR
MTRR
CUI: C1856057
Disease:
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type
0.800 GeneticVariation UNIPROT Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folatecobalamin metabolism. 10484769 1999
dbSNP: rs137853061
rs137853061
Entrez Id: 4552
Gene Symbol: MTRR
MTRR
CUI: C1856057
Disease:
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type
0.800 GeneticVariation UNIPROT Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria. 9501215 1998
dbSNP: rs137853061
rs137853061
Entrez Id: 4552
Gene Symbol: MTRR
MTRR
CUI: C1856057
Disease:
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type
A 0.800 CausalMutation CLINVAR
dbSNP: rs137853062
rs137853062
Entrez Id: 4552
Gene Symbol: MTRR
MTRR
CUI: C1856057
Disease:
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type
T 0.700 CausalMutation CLINVAR
dbSNP: rs1532268
rs1532268
Entrez Id: 4552
Gene Symbol: MTRR
MTRR
CUI: C0010068
Disease:
Coronary heart disease
0.030 GeneticVariation BEFREE Also, MTRR A66G and C524T polymorphisms were associated with a higher CHD risk in the homozygote comparison of wild and mutant genotypes and also in heterozygote and mutant comparison. 28778621 2017
dbSNP: rs1532268
rs1532268
Entrez Id: 4552
Gene Symbol: MTRR
MTRR
CUI: C0010068
Disease:
Coronary heart disease
0.030 GeneticVariation BEFREE In conclusion, MTRR A66G and C524T polymorphisms are associated with increased risk of CHDs. 22057956 2011
dbSNP: rs1532268
rs1532268
Entrez Id: 4552
Gene Symbol: MTRR
MTRR
CUI: C0010068
Disease:
Coronary heart disease
0.030 GeneticVariation BEFREE Further subgroup analyses according to ethnicity of study participants demonstrated that the <i>MTRR</i> rs1801394 polymorphism was significantly correlated with the risk of CHD only in Asians, whereas <i>MTRR</i> rs1532268, <i>MTHFR</i> rs1801133 and <i>MTHFR</i> rs1801131 polymorphisms were significantly correlated with the risk of CHD in both Asians and Caucasians.<b>Conclusions:</b> Our findings indicated that <i>MTRR</i> rs1532268, <i>MTHFR</i> rs1801131 and <i>MTHFR</i> rs1801133 polymorphisms may affect the risk of CHD in Asians and Caucasians, while the <i>MTRR</i> rs1801394 polymorphism may only affect in risk of CHD in Asians. 30333252 2018
dbSNP: rs1532268
rs1532268
Entrez Id: 4552
Gene Symbol: MTRR
MTRR
CUI: C0085669
Disease:
Acute leukemia
0.010 GeneticVariation BEFREE This study tested the hypothesis that maternal folic acid supplementation before or during pregnancy reduces AL risk, accounting for the SNPs rs1801133 (C677T) and rs1801131 (A1298C) in MTHFR and rs1801394 (A66G) and rs1532268 (C524T) in MTRR, assumed to modify folate metabolism. 22706675 2012
dbSNP: rs1532268
rs1532268
Entrez Id: 4552
Gene Symbol: MTRR
MTRR
CUI: C4521042
Disease:
Complete Trisomy 21 Syndrome
0.010 GeneticVariation BEFREE MTRR C524T polymorphism decreases the risk of DS in the Chinese population. 22925068 2013
dbSNP: rs1532268
rs1532268
Entrez Id: 4552
Gene Symbol: MTRR
MTRR
CUI: C0027794
Disease:
Neural Tube Defects
0.010 GeneticVariation BEFREE No significant NTD association was found with S175L or K350R in cases or their parents and no interactions were observed between these polymorphisms and the D919G variant of MTR or the A222V variant of 5,10-methylenetetrahydrofolate reductase (MTHFR). 15979034 2005
dbSNP: rs1532268
rs1532268
Entrez Id: 4552
Gene Symbol: MTRR
MTRR
CUI: C0699791
Disease:
Stomach Carcinoma
0.010 GeneticVariation BEFREE In the allele model, using the chi-square test, we found that the rs1532268 in MTRR with a minor allele T was significantly associated with increased risk of GC (OR = 1.24, 95% CI, 1.00-1.53; p = 0.048). 30884202 2019
dbSNP: rs1532268
rs1532268
Entrez Id: 4552
Gene Symbol: MTRR
MTRR
CUI: C0018798
Disease:
Congenital Heart Defects
0.010 GeneticVariation BEFREE A66G and C524T polymorphisms of the methionine synthase reductase gene are associated with congenital heart defects in the Chinese Han population. 22057956 2011
dbSNP: rs1532268
rs1532268
Entrez Id: 4552
Gene Symbol: MTRR
MTRR
CUI: C0152021
Disease:
Congenital heart disease
0.010 GeneticVariation BEFREE A66G and C524T polymorphisms of methionine synthase reductase gene are linked to the development of acyanotic congenital heart diseases in Egyptian children. 28778621 2017
dbSNP: rs1532268
rs1532268
Entrez Id: 4552
Gene Symbol: MTRR
MTRR
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Viable cell growth, MDI, and polymorphism frequency in MTRR (A66G and C524T) and MTHFR (A1298C and A1793G) did not differ among the study groups; however, MDI tended to be higher in BRCA carriers with breast cancer than those without and was significantly increased in MTHFR 677T allele carriers relative to wild-type carriers (P=0.017). 18842997 2008
dbSNP: rs1532268
rs1532268
Entrez Id: 4552
Gene Symbol: MTRR
MTRR
CUI: C0013080
Disease:
Down Syndrome
0.010 GeneticVariation BEFREE MTRR C524T polymorphism decreases the risk of DS in the Chinese population. 22925068 2013
dbSNP: rs1532268
rs1532268
Entrez Id: 4552
Gene Symbol: MTRR
MTRR
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Viable cell growth, MDI, and polymorphism frequency in MTRR (A66G and C524T) and MTHFR (A1298C and A1793G) did not differ among the study groups; however, MDI tended to be higher in BRCA carriers with breast cancer than those without and was significantly increased in MTHFR 677T allele carriers relative to wild-type carriers (P=0.017). 18842997 2008