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rs1051266

Chromosome : 21 , Position: 45537880

Most conditions are affected by anywhere from hundreds to millions of genetic variants (SNPs). A single SNP usually has a minor contribution to a person’s overall genetic risk for a certain condition. That is why you shouldn't consider or act on a SNP in isolation. Instead, we use SNPs to determine polygenic risk scores (PRSs), which are the basis of most health reports.

Reference Allele: T

Alternative Alleles: C

Associated Genes

SLC19A1

COL18A1

PCBP3

POFUT2

ADARB1

COL6A1

Summary

rs1051266 (Arg27Cys, 80G>A) is a snp within SLC19A1 (Solute carrier family 19 (folate transporter), member 1).

[PMID 19172696] Cys (A) allele associated with reduced plasma folate

[PMID 19650776] women with GA and AA genotypes had higher red blood cell folate concentrations, not significantly associated with serum folate or homocysteine levels

[PMID 18316334] methotrexate (antifolate drug) uptake lowest in individuals with GG genotype than those with GA or AA genotypes

[PMID 20037791] Genes involved with folate uptake and distribution and their association with colorectal cancer risk

[PMID 20233025] The SLC19A1 80G>A polymorphism is not associated with male infertility

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

[PMID 21274745] Variation in folate pathway genes and distal colorectal adenoma risk: a sigmoidoscopy-based case-control study

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

[PMID 17366837] Genetic studies of a cluster of acute lymphoblastic leukemia cases in Churchill County, Nevada.

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

[PMID 18182569] Pharmacogenetics of minimal residual disease response in children with B-precursor acute lymphoblastic leukemia: a report from the Children’s Oncology Group.

[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 18547414] Genotyping panel for assessing response to cancer chemotherapy.

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

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

[PMID 19193698] Investigation of candidate polymorphisms and disease activity in rheumatoid arthritis patients on methotrexate.

[PMID 19252927] Bladder cancer SNP panel predicts susceptibility and survival.

[PMID 19376481] One-carbon metabolism and breast cancer: an epidemiological perspective.

[PMID 19493349] 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.

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

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

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

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

[PMID 23148635] Genetic variation in the SLC19A1 gene and methotrexate toxicity in rheumatoid arthritis patients

[PMID 24554143] Serum Folic Acid and RFC A80G Polymorphism in Alzheimer’s Disease and Vascular Dementia

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

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

[PMID 22890010] Association of COMT, MTHFR, and SLC19A1(RFC-1) polymorphisms with homocysteine blood levels and cognitive impairment in Parkinson’s disease.

[PMID 24782176] RFC1 80G>A Is a Genetic Determinant of Methotrexate Efficacy in Rheumatoid Arthritis: A Human Genome Epidemiologic Review and Meta-Analysis of Observational Studies

[PMID 24917213] Interaction between the SLC19A1 Gene and maternal first trimester fever on offspring neural tube defects

[PMID 25124723] SLC19A1, SLC46A1 and SLCO1B1 Polymorphisms As Predictors Of Methotrexate-Related Toxicity In Portuguese Rheumatoid Arthritis Patients

More Information

The ''T'' allele is associated with reduced plasma folate [R].

Women with CT and TT genotypes had higher red blood cell folate concentrations, not significantly associated with serum folate or homocysteine levels [R].

Methotrexate (antifolate drug) uptake was lowest in individuals with CC genotype than those with CT or TT genotypes [R].

Population Alleles Frequency

ethhicity	frequency
African/African-American	0.3913
Latino/Admixed American	0.552
Ashkenazi Jewish	0.6042
East Asian	0.4749
European	0.5713
Other (population not assigned)	0.5758

Frequently Asked Questions

Why Are Alleles for This SNP Different Elsewhere? Major vs. Reference Allele Is My Variant Good or Bad? SNP vs. Mutation

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rs1051266

Associated Genes

Summary

More Information

Population Alleles Frequency

Frequently Asked Questions

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