|(G;G)||2||1.4x higher risk for meningiomas|
Based on a study of British patients with primary brain tumors, (1,005 glioma cases and 631 meningioma cases), rs1801394(G;G) individuals were at higher risk for meningioma (odds ratio 1.41, CI: 1.02-1.94). In general, genotypes associated with increased 5,10-methylenetetrahydrofolate levels are associated with elevated risk for these types of brain cancer.[PMID 18483342]
[PMID 27342765] Genetic impairments in folate enzymes increase dependence on dietary choline for phosphatidylcholine production at the expense of betaine synthesis
[PMID 19493349] 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects
[PMID 18682255] Arsenic metabolism is influenced by polymorphisms in genes involved in one-carbon metabolism and reduction reactions
[PMID 20883119] Common polymorphisms in six genes of the methyl group metabolism pathway and obesity in European adolescents
[PMID 22005284] Importance of gene variants and co-factors of folate metabolic pathway in the etiology of idiopathic intellectual disability
[PMID 21211571] MTHFR and MTRR genotype and haplotype analysis and colorectal cancer susceptibility in a case-control study from the Czech Republic
[PMID 21429654] Polymorphic variants of folate and choline metabolism genes and the risk of endometriosis-associated infertility
[PMID 22796266] Polymorphisms of tumor-related genes IL-10, PSCA, MTRR and NOC3L are associated with the risk of gastric cancer in the Chinese Han population
[PMID 17035141] Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions.
[PMID 18191955] Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.
[PMID 18199722] Dietary vitamin B6 intake and the risk of colorectal cancer.
[PMID 18203168] Folate and one-carbon metabolism gene polymorphisms and their associations with oral facial clefts.
[PMID 18521744] BRCA1 promoter methylation is associated with increased mortality among women with breast cancer.
[PMID 18708404] B-vitamin intake, one-carbon metabolism, and survival in a population-based study of women with breast cancer.
[PMID 18708408] Vitamins B2, B6, and B12 and risk of new colorectal adenomas in a randomized trial of aspirin use and folic acid supplementation.
[PMID 18936436] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
[PMID 18992148] Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study.
[PMID 19064578] No association of single nucleotide polymorphisms in one-carbon metabolism genes with prostate cancer risk.
[PMID 19336559] Global DNA hypomethylation (LINE-1) in the normal colon and lifestyle characteristics and dietary and genetic factors.
[PMID 19376481] One-carbon metabolism and breast cancer: an epidemiological perspective.
[PMID 19657388] Lack of association between genetic polymorphisms in enzymes associated with folate metabolism and unexplained reduced sperm counts.
[PMID 19706844] 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 19776626] Polymorphisms in methionine synthase, methionine synthase reductase and serine hydroxymethyltransferase, folate and alcohol intake, and colon cancer risk.
[PMID 20852008] Associations of folate, vitamin B12, homocysteine, and folate-pathway polymorphisms with prostate-specific antigen velocity in men with localized prostate cancer.
[PMID 21349258] Folate and choline metabolism gene variants and development of uterine cervical carcinoma.
[PMID 21688148] Polymorphic variants of genes involved in homocysteine metabolism in celiac disease.
[PMID 22183302] Folate and choline metabolism gene variants in relation to ovarian cancer risk in the Polish population.
|Disease||Neural tube defects Down syndrome not specified Gastrointestinal stromal tumor Methotrexate response - Toxicity/ADR Disorders of Intracellular Cobalamin Metabolism|
|CLNDBN||Neural tube defects, folate-sensitive, susceptibility to Down syndrome, susceptibility to not specified Gastrointestinal stromal tumor methotrexate response - Toxicity/ADR Disorders of Intracellular Cobalamin Metabolism|
|CLNSRC||OMIM Allelic Variant PharmGKB Clinical Annotation UniProtKB (protein)|
|CLNACC||RCV000007444.2, RCV000007445.2, RCV000126873.4, RCV000144926.1, RCV000211244.1, RCV000264714.1,|
[PMID 23401104] Folate-genetics and colorectal neoplasia: what we know and need to know next
[PMID 24261678] MTRR A66G polymorphism and leukemia risk: evidence from published studies
[PMID 22021659] Genetic variation throughout the folate metabolic pathway influences negative symptom severity in schizophrenia.
[PMID 22706675] Folic acid supplementation, MTHFR and MTRR polymorphisms, and the risk of childhood leukemia: the ESCALE study (SFCE).
[PMID 23560644] Polymorphisms in genes involved in the free-radical process in patients with sudden sensorineural hearing loss and Meniere's disease.
[PMID 26196053] Association between genetic polymorphisms in folate-related enzyme genes and infertile men with non-obstructive azoospermia
[PMID 28405167] Genetic variants and increased risk of meningioma: an updated meta-analysis.
[PMID 28700981] Folate metabolism genetic polymorphisms and meningioma and glioma susceptibility in adults.
[PMID 28915669] Folate metabolism genetic polymorphisms and meningioma and glioma susceptibility in adults.
[PMID 29392422] Association of main folate metabolic pathway gene polymorphisms with neural tube defects in Han population of Northern China.