Normal allele: AA
Moderate risk factor for hyperhomocysteinaemia. A factor that increases the body's need for folic acid and vitamin B12.
Polymorphism rs1805087 is related to topics like this:
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MTHFR is an enzyme crucial for converting folic acid into an active form known as L-methylfolate,...
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Many individuals carry MTHFR mutations without being aware of their MTHFR status, while only a...
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Zinc finger proteins constitute the most extensive transcription factor family within the human...
![DNA methylation genes](/assets/images/diseases/methylation.webp)
The Genetic Methylation Check examines your DNA to offer insights into your unique methylation...
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Varicose veins present a pervasive issue for which no endorsed medical remedies exist. Despite the...
![Infertility genetic](/assets/images/diseases/infertility.webp)
Approximately 15% of couples of reproductive age are affected by infertility, which is a complex...
![Vegetarian genetic](/assets/images/diseases/vegetarian.webp)
Various reasons drive individuals to experiment with a vegetarian diet, ranging from ethical and...
Research and publications:
9919998 The frequency of a common mutation of the methionine synthase gene in the Australian population and its relation to smoking and coronary artery disease.
17035141 Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions
17119116 Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma: NCI-SEER case-control study
18098291 Folate metabolism genes, vegetable intake and renal cancer risk in central Europe
18191955 Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools
18199722 Dietary vitamin B6 intake and the risk of colorectal cancer
18203168 Folate and one-carbon metabolism gene polymorphisms and their associations with oral facial clefts
18381459 Genetic variation in the one-carbon transfer pathway and ovarian cancer risk.
18521744 BRCA1 promoter methylation is associated with increased mortality among women with breast cancer
18708404 B-vitamin intake, one-carbon metabolism, and survival in a population-based study of women with breast cancer
18708408 Vitamins B2, B6, and B12 and risk of new colorectal adenomas in a randomized trial of aspirin use and folic acid supplementation
18830263 Polymorphisms in DNA repair and one-carbon metabolism genes and overall survival in diffuse large B-cell lymphoma and follicular lymphoma
18842806 Associations between single nucleotide polymorphisms in folate uptake and metabolizing genes with blood folate, homocysteine, and DNA uracil concentrations
18992148 Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study
19064578 No association of single nucleotide polymorphisms in one-carbon metabolism genes with prostate cancer risk
19112534 Lack of association of polymorphisms in homocysteine metabolism genes with pseudoexfoliation syndrome and glaucoma
19336559 Global DNA hypomethylation (LINE-1) in the normal colon and lifestyle characteristics and dietary and genetic factors
19376481 One-carbon metabolism and breast cancer: an epidemiological perspective
19493349 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects
19525478 Identification of ZNF366 and PTPRD as novel determinants of plasma homocysteine in a family-based genome-wide association study.
19683694 Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida
19706843 Alcohol consumption and genetic variation in methylenetetrahydrofolate reductase and 5-methyltetrahydrofolate-homocysteine methyltransferase in relation to breast cancer risk
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
19737740 Associations of folate and choline metabolism gene polymorphisms with orofacial clefts.
19776626 Polymorphisms in methionine synthase, methionine synthase reductase and serine hydroxymethyltransferase, folate and alcohol intake, and colon cancer risk
19936946 Germline polymorphisms in the one-carbon metabolism pathway and DNA methylation in colorectal cancer
20099281 Blood leukocyte DNA hypomethylation and gastric cancer risk in a high-risk Polish population.
20101025 Genetic variation in the folate metabolic pathway and risk of childhood leukemia
20111745 Gene-gene interactions in the folate metabolic pathway and the risk of conotruncal heart defects
20490431 5-Methyltetrahydrofolate-homocysteine methyltransferase gene polymorphism (MTR) and risk of head and neck cancer.
20544798 Genetic and lifestyle variables associated with homocysteine concentrations and the distribution of folate derivatives in healthy premenopausal women
20549016 MTHFR, MTR, and MTRR polymorphisms in relation to p16INK4A hypermethylation in mucosa of patients with colorectal cancer.
20600216 Individual differences in arsenic metabolism and lung cancer in a case-control study in Cordoba, Argentina
20615890 A candidate gene study of folate-associated one carbon metabolism genes and colorectal cancer risk.
20670920 Association of genetic variation in cystathionine-beta-synthase and arsenic metabolism
20718043 Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome
20811316 SLC19A1 pharmacogenomics summary.
20813848 Plasma vitamins B2, B6, and B12, and related genetic variants as predictors of colorectal cancer risk
20960050 Dietary methyl donors, methyl metabolizing enzymes, and epigenetic regulators: diet-gene interactions and promoter CpG island hypermethylation in colorectal cancer
21036793 Molecular pathological epidemiology of colorectal neoplasia: an emerging transdisciplinary and interdisciplinary field
21146954 Genes and abdominal aortic aneurysm
21178085 High intake of folate from food sources is associated with reduced risk of esophageal cancer in an Australian population
21204206 Evaluation of 64 candidate single nucleotide polymorphisms as risk factors for neural tube defects in a large Irish study population
21254359 Folate pathway and nonsyndromic cleft lip and palate.
21274745 Variation in folate pathway genes and distal colorectal adenoma risk: a sigmoidoscopy-based case-control study.
21349258 Folate and choline metabolism gene variants and development of uterine cervical carcinoma.
21429654 Polymorphic variants of folate and choline metabolism genes and the risk of endometriosis-associated infertility.
21441680 Profiling single nucleotide polymorphisms (SNPs) across intracellular folate metabolic pathway in healthy Indians.
21467728 Profile of participants and genotype distributions of 108 polymorphisms in a cross-sectional study of associations of genotypes with lifestyle and clinical factors: a project in the Japan Multi-Institutional Collaborative Cohort (J-MICC) Study.
21514219 Genetic variants associated with breast-cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence
21533139 Predicting diabetic nephropathy using a multifactorial genetic model.
21533266 Data integration workflow for search of disease driving genes and genetic variants.
21567207 Tetra primer ARMS-PCR relates folate/homocysteine pathway genes and ACE gene polymorphism with coronary artery disease.
21597034 The folate hydrolase 1561C>T polymorphism is associated with depressive symptoms in Puerto Rican adults.
21610500 Prenatal vitamins, one-carbon metabolism gene variants, and risk for autism.
21615938 Genetic polymorphisms in folate pathway enzymes, DRD4 and GSTM1 are related to temporomandibular disorder.
21618410 Folate pathway polymorphisms predict deficits in attention and processing speed after childhood leukemia therapy.
21658613 Host genetics in follicular lymphoma.
21688148 Polymorphic variants of genes involved in homocysteine metabolism in celiac disease.
21738611 B vitamins, methionine and alcohol intake and risk of colon cancer in relation to BRAF mutation and CpG island methylator phenotype (CIMP).
21747588 Genetic variation in genes involved in folate and drug metabolism in a south Indian population.
21748308 Genetic variants in the folate pathway and risk of childhood acute lymphoblastic leukemia.
21857689 Folate and vitamin B12 in idiopathic male infertility.
21960995 Common variants of homocysteine metabolism pathway genes and risk of type 2 diabetes and related traits in Indians.
22021659 Genetic variation throughout the folate metabolic pathway influences negative symptom severity in schizophrenia.
22116453 Folate and vitamin B12-related genes and risk for omphalocele.
22183302 Folate and choline metabolism gene variants in relation to ovarian cancer risk in the Polish population.
22199995 The causal roles of vitamin B(12) and transcobalamin in prostate cancer: can Mendelian randomization analysis provide definitive answers?
22371529 DNA methylation in peripheral blood measured by LUMA is associated with breast cancer in a population-based study.
22496743 Genetic variant of AMD1 is associated with obesity in urban Indian children.
22616673 Global tests of P-values for multifactor dimensionality reduction models in selection of optimal number of target genes.
22719222 The polymorphisms in methylenetetrahydrofolate reductase, methionine synthase, methionine synthase reductase, and the risk of colorectal cancer.
22792358 Association between genetic variants in DNA and histone methylation and telomere length.
22833659 Gender and single nucleotide polymorphisms in MTHFR, BHMT, SPTLC1, CRBP2, CETP, and SCARB1 are significant predictors of plasma homocysteine normalized by RBC folate in healthy adults.
22839213 Association of postmenopausal endogenous sex hormones with global methylation level of leukocyte DNA among Japanese women.
22957669 Association of dietary and genetic factors related to one-carbon metabolism with global methylation level of leukocyte DNA.
23139751 Exome sequencing of only seven Qataris identifies potentially deleterious variants in the Qatari population.
23276522 Genetic variation at fifteen gene loci associated with the folate metabolic pathway and the risk of head and neck carcinoma: the Women's Genome Health Study.
23294634 Risk score modeling of multiple gene to gene interactions using aggregated-multifactor dimensionality reduction.
23401104 Folate-genetics and colorectal neoplasia: what we know and need to know next.
23446900 One-carbon metabolism factors and leukocyte telomere length.
23560644 Polymorphisms of genes involved in the free radical process in patients with sudden sensorineural hearing loss and Meniere's disease.
23656756 Single nucleotide polymorphisms in CETP, SLC46A1, SLC19A1, CD36, BCMO1, APOA5, and ABCA1 are significant predictors of plasma HDL in healthy adults.
23940529 Roles of genetic polymorphisms in the folate pathway in childhood acute lymphoblastic leukemia evaluated by Bayesian relevance and effect size analysis.
23946381 Genetic variants associated with colorectal cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence.
23951366 Application of artificial neural networks to study one-carbon metabolism in Alzheimer's disease and in healthy people.
24048206 Neural tube defects, folic acid and methylation.
24063603 Cancer-testis gene expression is associated with the methylenetetrahydrofolate reductase 677 C>T polymorphism in non-small cell lung carcinoma.
24103477 Methylenetetrahydrofolate reductase C677T and methionine synthase A2756G polymorphisms influence on leukocyte genomic DNA methylation level.
24130171 Global DNA methylation and one-carbon metabolism gene polymorphisms and the risk of breast cancer in the Sister Study.
24500500 Gene promoter methylation in colorectal cancer and healthy adjacent mucosa specimens: correlation with physiological and pathological characteristics, and with biomarkers of one-carbon metabolism.
24521996 Genetic variants and multiple myeloma risk: IMMEnSE validation of the best reported associations--an extensive replication of the associations from the candidate gene era.
24524080 The effect of multiple single nucleotide polymorphisms in the folic acid pathway genes on homocysteine metabolism.
24534481 Association between TLR2, MTR, MTRR, XPC, TP73, TP53 genetic polymorphisms and gastric cancer: a meta-analysis.
24748989 Association of methionine synthase rs1801394 and methionine synthase reductase rs1805087 polymorphisms with meningioma in adults: A meta-analysis.
24956146 No association between MTR rs1805087 A > G polymorphism and non-Hodgkin lymphoma susceptibility: evidence from 11 486 subjects.
24991206 Polymorphisms in folate pathway and pemetrexed treatment outcome in patients with malignant pleural mesothelioma.
25227144 Folate-related polymorphisms in gastrointestinal stromal tumours: susceptibility and correlation with tumour characteristics and clinical outcome.
25293959 Replication and exploratory analysis of 24 candidate risk polymorphisms for neural tube defects.
25315199 Genetic association and gene expression studies suggest that genetic variants in the SYNE1 and TNF genes are related to menstrual migraine.