{{Rsnum
|rsid=1805087
|Gene=MTR
|Chromosome=1
|position=236885200
|Orientation=plus
|GMAF=0.1933
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=MTR
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 68.8 | 30.3 | 0.9
| HCB | 88.9 | 8.9 | 2.2
| JPT | 63.9 | 33.3 | 2.8
| YRI | 46.6 | 43.8 | 9.6
| ASW | 0.0 | 0.0 | 0.0
| CHB | 88.9 | 8.9 | 2.2
| CHD | 0.0 | 0.0 | 0.0
| GIH | 44.6 | 44.6 | 10.9
| LWK | 50.0 | 37.0 | 13.0
| MEX | 66.1 | 32.1 | 1.8
| MKK | 41.6 | 43.5 | 14.9
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{PMID Auto
|PMID=19737740
|Title=Associations of folate and choline metabolism gene polymorphisms with orofacial clefts
}}

{{PMID Auto
|PMID=20490431
|Title=5-Methyltetrahydrofolate-homocysteine methyltransferase gene polymorphism (MTR) and risk of head and neck cancer
}}

{{PharmGKB
|RSID=rs1805087
|Name_s=MTR:2756A>G; MTR:Asp919Gly; MS 2756A>G; MS D919G
|Gene_s=MTR
|Feature=Exon/NonSyn
|Evidence=PubMed ID:10498402
|Annotation=Risk or phenotype-associated allele: G Phenotype: The GG (Gly/Gly) genotype was associated with lower risk for colorectal cancer. This risk was further lowered in men with low alcohol intake. Study size: Study population/ethnicity: Patients with colorectal cancer from the Physicians' Health Study (PHS) and the Health Professional Follow-up Study (HPFS). Significance metric(s): OR = 0.59 (95% CI, 0.27-1.27); OR = 0.27 (95% CI, 0.09-0.81)(interaction with alcohol) Type of association: CO
|Drugs=ethanol
|Drug Classes=
|Diseases=Colorectal Neoplasms
|Curation Level=Curated
|PharmGKB Accession ID=PA165223226
}}

{{PMID Auto
|PMID=21567207
|Title=Tetra primer ARMS-PCR relates folate/homocysteine pathway genes and ACE gene polymorphism with coronary artery disease
}}

{{PMID Auto
|PMID=22005284
|Title=Importance of gene variants and co-factors of folate metabolic pathway in the etiology of idiopathic intellectual disability
}}

{{PMID Auto
|PMID=21429654
|Title=Polymorphic variants of folate and choline metabolism genes and the risk of endometriosis-associated infertility
}}

{{PMID Auto
|PMID=22792358
|Title=Association between Genetic Variants in DNA and Histone Methylation and Telomere Length.
|OA=1
}}

{{PMID Auto
|PMID=17035141
|Title=Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions.
|OA=1
}}

{{PMID Auto
|PMID=17119116
|Title=Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma: NCI-SEER case-control study.
|OA=1
}}

{{PMID Auto
|PMID=18098291
|Title=Folate metabolism genes, vegetable intake and renal cancer risk in central Europe.
}}

{{PMID Auto
|PMID=18191955
|Title=Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.
|OA=1
}}

{{PMID Auto
|PMID=18199722
|Title=Dietary vitamin B6 intake and the risk of colorectal cancer.
}}

{{PMID Auto
|PMID=18203168
|Title=Folate and one-carbon metabolism gene polymorphisms and their associations with oral facial clefts.
|OA=1
}}

{{PMID Auto
|PMID=18381459
|Title=Genetic variation in the one-carbon transfer pathway and ovarian cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=18521744
|Title=BRCA1 promoter methylation is associated with increased mortality among women with breast cancer.
|OA=1
}}

{{PMID Auto
|PMID=18708404
|Title=B-vitamin intake, one-carbon metabolism, and survival in a population-based study of women with breast cancer.
|OA=1
}}

{{PMID Auto
|PMID=18708408
|Title=Vitamins B2, B6, and B12 and risk of new colorectal adenomas in a randomized trial of aspirin use and folic acid supplementation.
|OA=1
}}

{{PMID Auto
|PMID=18842806
|Title=Associations between single nucleotide polymorphisms in folate uptake and metabolizing genes with blood folate, homocysteine, and DNA uracil concentrations.
|OA=1
}}

{{PMID Auto
|PMID=18992148
|Title=Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study.
|OA=1
}}

{{PMID Auto
|PMID=19064578
|Title=No association of single nucleotide polymorphisms in one-carbon metabolism genes with prostate cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=19112534
|Title=Lack of association of polymorphisms in homocysteine metabolism genes with pseudoexfoliation syndrome and glaucoma.
|OA=1
}}

{{PMID Auto
|PMID=19336559
|Title=Global DNA hypomethylation (LINE-1) in the normal colon and lifestyle characteristics and dietary and genetic factors.
|OA=1
}}

{{PMID Auto
|PMID=19376481
|Title=One-carbon metabolism and breast cancer: an epidemiological perspective.
|OA=1
}}

{{PMID Auto
|PMID=19493349
|Title=118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.
|OA=1
}}

{{PMID Auto
|PMID=19525478
|Title=Identification of ZNF366 and PTPRD as novel determinants of plasma homocysteine in a family-based genome-wide association study.
|OA=1
}}

{{PMID Auto
|PMID=19706843
|Title=Alcohol consumption and genetic variation in methylenetetrahydrofolate reductase and 5-methyltetrahydrofolate-homocysteine methyltransferase in relation to breast cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=19706844
|Title=Association of folate-pathway gene polymorphisms with the risk of prostate cancer: a population-based nested case-control study, systematic review, and meta-analysis.
}}

{{PMID Auto
|PMID=19776626
|Title=Polymorphisms in methionine synthase, methionine synthase reductase and serine hydroxymethyltransferase, folate and alcohol intake, and colon cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=20111745
|Title=Gene-gene interactions in the folate metabolic pathway and the risk of conotruncal heart defects.
|OA=1
}}

{{PMID Auto
|PMID=21349258
|Title=Folate and choline metabolism gene variants and development of uterine cervical carcinoma.
}}

{{PMID Auto
|PMID=21688148
|Title=Polymorphic variants of genes involved in homocysteine metabolism in celiac disease.
|OA=1
}}

{{PMID Auto
|PMID=22183302
|Title=Folate and choline metabolism gene variants in relation to ovarian cancer risk in the Polish population.
}}

{{GET Evidence
|gene=MTR
|aa_change=Asp919Gly
|aa_change_short=D919G
|impact=protective
|qualified_impact=Low clinical importance, Uncertain protective
|inheritance=other
|quality_scores=Array
|dbsnp_id=rs1805087
|overall_frequency_n=2337
|overall_frequency_d=10758
|overall_frequency=0.217234
|n_genomes=17
|n_genomes_annotated=0
|n_haplomes=19
|n_articles=4
|n_articles_annotated=4
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|qualityscore_case_control=2
|qualitycomment_case_control=Y
|qualityscore_severity=4
|qualitycomment_severity=Y
|qualityscore_treatability=3
|qualitycomment_treatability=Y
|gene_in_genetests=Y
|in_pharmgkb=Y
|pph2_score=0.777
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=4
|autoscore=4
|webscore=N
|n_web_uneval=9
|variant_evidence=0
|clinical_importance=0
|summary_short=This variant was weakly associated with a protective effect vs. colorectal cancer, but only in individuals with low alcohol consumption.   
}}

{{PMID Auto
|PMID=22957669
|Title=Association of dietary and genetic factors related to one-carbon metabolism with global methylation level of leukocyte DNA
}}

{{PMID Auto
|PMID=24103477
|Title=Methylenetetrahydrofolate reductase C677T and methionine synthase A2756G polymorphisms influence on leukocyte genomic DNA methylation level
}}

{{PMID Auto
|PMID=23401104
|Title=Folate-genetics and colorectal neoplasia: what we know and need to know next
}}

{{PMID Auto
|PMID=22021659
|Title=Genetic variation throughout the folate metabolic pathway influences negative symptom severity in schizophrenia.
|OA=1
}}

{{PMID Auto
|PMID=23560644
|Title=Polymorphisms in genes involved in the free-radical process in patients with sudden sensorineural hearing loss and Meniere's disease.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}