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SNP information rs1051266

Normal allele: TT

The protein encoded by the gene transports folic acid into the cell and thus plays a role in the intracellular regulation of folate concentration. In this genotype, folate absorption is worse. Folic acid requirement is higher. Alcohol consumption is more critical for the risk of vitamin B9 deficiency.

Polymorphism rs1051266 is related to topics like this:

Vitamin B9 (folic acid)
Methylation and homocysteine
Vitamin B4 (choline)
Mitochondrial function


Research and publications:

  17035141   Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions

  17366837   Genetic studies of a cluster of acute lymphoblastic leukemia cases in Churchill County, Nevada

  17852831   Genotyping of the reduced folate carrier-1 c.80G>A polymorphism by pyrosequencing technology: importance of PCR and pre-PCR optimization.

  18203168   Folate and one-carbon metabolism gene polymorphisms and their associations with oral facial clefts

  18521744   BRCA1 promoter methylation is associated with increased mortality among women with breast cancer

  18547414   Genotyping panel for assessing response to cancer chemotherapy

  18708404   B-vitamin intake, one-carbon metabolism, and survival in a population-based study of women with breast cancer

  18842806   Associations between single nucleotide polymorphisms in folate uptake and metabolizing genes with blood folate, homocysteine, and DNA uracil concentrations

  19193698   Investigation of candidate polymorphisms and disease activity in rheumatoid arthritis patients on methotrexate

  19252927   Bladder cancer SNP panel predicts susceptibility and survival.

  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

  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

  20037791   Genes involved with folate uptake and distribution and their association with colorectal cancer risk.

  20233025   The SLC19A1 80G>A polymorphism is not associated with male infertility.

  20472929   Folate pathway enzyme gene polymorphisms and the efficacy and toxicity of methotrexate in psoriatic arthritis

  20511665   Candidate gene association studies and risk of childhood acute lymphoblastic leukemia: a systematic review and meta-analysis.

  20544798   Genetic and lifestyle variables associated with homocysteine concentrations and the distribution of folate derivatives in healthy premenopausal women

  20661649   A80G polymorphism of reduced folate carrier 1 (RFC1) gene and head and neck squamous cell carcinoma etiology in Brazilian population.

  20683905   Association of folate receptor (FOLR1, FOLR2, FOLR3) and reduced folate carrier (SLC19A1) genes with meningomyelocele.

  20718043   Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome

  20811316   SLC19A1 pharmacogenomics summary.

  20847277   Genotyping of DNA samples isolated from formalin-fixed paraffin-embedded tissues using preamplification.

  20890936   Maternal polymorphisms in folic acid metabolic genes are associated with nonsyndromic cleft lip and/or palate in the Brazilian population.

  20948922   Influence of reduced folate carrier and dihydrofolate reductase genes on methotrexate-induced cytotoxicity.

  21146954   Genes and abdominal aortic aneurysm

  21219404   Influence of polymorphisms within the methotrexate pathway genes on the toxicity and efficacy of methotrexate in patients with juvenile idiopathic arthritis.

  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.

  21282454   Association of thymidylate synthase gene polymorphisms with stavudine triphosphate intracellular levels and lipodystrophy.

  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.

  21615938   Genetic polymorphisms in folate pathway enzymes, DRD4 and GSTM1 are related to temporomandibular disorder.

  21748308   Genetic variants in the folate pathway and risk of childhood acute lymphoblastic leukemia.

  21857689   Folate and vitamin B12 in idiopathic male infertility.

  22021659   Genetic variation throughout the folate metabolic pathway influences negative symptom severity in schizophrenia.

  22039442   Comprehensive evaluation of one-carbon metabolism pathway gene variants and renal cell cancer risk.

  22103680   Folate network genetic variation, plasma homocysteine, and global genomic methylation content: a genetic association study.

  22116453   Folate and vitamin B12-related genes and risk for omphalocele.

  22371529   DNA methylation in peripheral blood measured by LUMA is associated with breast cancer in a population-based study.

  22479380   Genetic and non-genetic influences during pregnancy on infant global and site specific DNA methylation: role for folate gene variants and vitamin B12.

  22496743   Genetic variant of AMD1 is associated with obesity in urban Indian children.

  22552919   Bioinformatics and variability in drug response: a protein structural perspective.

  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.

  22859359   ABCB1 and ABCC3 gene polymorphisms are associated with first-year response to methotrexate in juvenile idiopathic arthritis.

  23226040   Pharmacogenetics of rheumatoid arthritis: Potential targets from susceptibility genes and present therapies.

  23233662   Genome-wide study of methotrexate clearance replicates SLCO1B1.

  23294634   Risk score modeling of multiple gene to gene interactions using aggregated-multifactor dimensionality reduction.

  23446900   One-carbon metabolism factors and leukocyte telomere length.

  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.

  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.

  24130171   Global DNA methylation and one-carbon metabolism gene polymorphisms and the risk of breast cancer in the Sister Study.

  24143213   SLCO1B1 and SLC19A1 gene variants and irinotecan-induced rapid response and survival: a prospective multicenter pharmacogenetics study of metastatic colorectal cancer.

  24223580   Folate-related gene variants in Irish families affected by neural tube defects.

  24367687   Using a Bayesian hierarchical model for identifying single nucleotide polymorphisms associated with childhood acute lymphoblastic leukemia risk in case-parent triads.

  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.

  24524080   The effect of multiple single nucleotide polymorphisms in the folic acid pathway genes on homocysteine metabolism.

  24728915   The association of idiopathic recurrent early pregnancy loss with polymorphisms in folic acid metabolism-related genes.

  24917213   Interaction between the SLC19A1 gene and maternal first trimester fever on offspring neural tube defects.

  24944790   Screening for 392 polymorphisms in 141 pharmacogenes.

  24991206   Polymorphisms in folate pathway and pemetrexed treatment outcome in patients with malignant pleural mesothelioma.

  25041994   Polymorphisms in folate-metabolizing enzymes and response to 5-fluorouracil among patients with stage II or III rectal cancer (INT-0144; SWOG 9304).

  25079255   A pilot study on the contribution of folate gene variants in the cognitive function of ADHD probands.

  25129243   Significant association of MTHFD1 1958G>A single nucleotide polymorphism with nonsyndromic cleft lip and palate in Indian population.

  25132748   FOLFOX/FOLFIRI pharmacogenetics: the call for a personalized approach in colorectal cancer therapy.

  25227144   Folate-related polymorphisms in gastrointestinal stromal tumours: susceptibility and correlation with tumour characteristics and clinical outcome.

  25266489   Genetic polymorphisms of VIP variants in the Tajik ethnic group of northwest China.

  25293959   Replication and exploratory analysis of 24 candidate risk polymorphisms for neural tube defects.

  25506935   An integrative computational approach for prioritization of genomic variants.

  25525416   Prediction of methotrexate efficacy and adverse events in patients with juvenile idiopathic arthritis: a systematic literature review.

  25536437   RFC-1 80G>A polymorphism in case-mother/control-mother dyads is associated with risk of nephroblastoma and neuroblastoma.

  25592011   Plasma micronutrient levels and telomere length in children.

  25659099   Association of reduced folate carrier-1 (RFC-1) polymorphisms with ischemic stroke and silent brain infarction.

  25671679   Folate metabolism gene polymorphisms and risk for down syndrome offspring in Turkish women.

  25745368   Prediction of methotrexate intolerance in juvenile idiopathic arthritis: a prospective, observational cohort study.

  25778468   Impact of genetic variants of RFC1, DHFR and MTHFR in osteosarcoma patients treated with high-dose methotrexate.

  25852556   Genetic determinants for methotrexate response in juvenile idiopathic arthritis.

  26091847   Genetic polymorphisms of pharmacogenomic VIP variants in the Uygur population from northwestern China.

  26250961   Polymorphisms in maternal folate pathway genes interact with arsenic in drinking water to influence risk of myelomeningocele.

  26451011   Systematic meta-analyses and field synopsis of genetic association studies in colorectal adenomas.

  27014279   Autosomal Minor Histocompatibility Antigens: How Genetic Variants Create Diversity in Immune Targets.

  27104192   Influence of genetic polymorphisms in the folate pathway on toxicity after high-dose methotrexate treatment in pediatric osteosarcoma.

  27233804   Genetic polymorphisms of pharmacogenomic VIP variants in the Mongol of Northwestern China.

  27274398   Preliminary study for predicting better methotrexate efficacy in Japanese patients with rheumatoid arthritis.

  27427275   Association of germline genetic variants in RFC, IL15 and VDR genes with minimal residual disease in pediatric B-cell precursor ALL.

  27752107   Folylpolyglutamate synthase is a major determinant of intracellular methotrexate polyglutamates in patients with rheumatoid arthritis.

  27783031   Association of MTHFR, SLC19A1 Genetic Polymorphism, Serum Folate, Vitamin B(12) and Hcy Status with Cognitive Functions in Chinese Adults.

  27808252   Functional variants of the 5-methyltetrahydrofolate-homocysteine methyltransferase gene significantly increase susceptibility to prostate cancer: Results from an ethnic Han Chinese population.

  27936032   The RFC1 80G>A, among Common One-Carbon Polymorphisms, Relates to Survival Rate According to DNA Global Methylation in Primary Liver Cancers.

  28250422   Components of the folate metabolic pathway and ADHD core traits: an exploration in eastern Indian probands.

  28266606   Polymorphisms and Pharmacogenomics for the Clinical Efficacy of Methotrexate in Patients with Rheumatoid Arthritis: A Systematic Review and Meta-analysis.

  28296761   Polymorphisms and pharmacogenomics for the toxicity of methotrexate monotherapy in patients with rheumatoid arthritis: A systematic review and meta-analysis.

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