rs45590836
This is a variant in the MTHFR gene that changes a methionine to an isoleucine.
▶ClinVar annotation
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
View on ClinVar →▶Research that mentions this SNP (3)
▶A single‐nucleotide polymorphism in the methylene tetrahydrofolate reductase (MTHFR) gene is associated with risk of radiation pneumonitis in lung cancer patients treated with thoracic radiation therapyAssociationN=136Raymond H. Mak et al.(2012)· Cancer
A retrospective candidate gene association study of 136 lung cancer patients found that the MTHFR 1298A>C polymorphism (rs1801131) was associated with reduced risk of grade ≥2 radiation pneumonitis after thoracic radiation therapy (adjusted hazard ratio 0.37, 95% CI: 0.18-0.76, p=0.006). The SOD2 polymorphism (rs4880) and another MTHFR variant (rs1801133) showed no significant association with radiation pneumonitis risk.
▶Evaluation of 64 candidate single nucleotide polymorphisms as risk factors for neural tube defects in a large Irish study populationAssociationN=2,079Tonia C. Carter et al.(2011)· American Journal of Medical Genetics Part A
This case-control and family-based study evaluated 64 SNPs in 34 genes for associations with spina bifida in 558 Irish case-families and 994 controls. Spina bifida was significantly associated with LEPR rs1805134 (GRR: 1.5, P = 0.0264) and COMT rs737865 (GRR: 1.4, P = 0.0206), with additional confirmations of previous findings in MTHFR 677C>T and other genes, suggesting roles for leptin signaling and methylation pathways in neural tube defect pathogenesis.
▶Replication of the tumor necrosis factor receptor−associated factor 1/complement component 5 region as a susceptibility locus for rheumatoid arthritis in a European family‐based studyAssociationN=318Kurreeman FA et al.(2008)· Arthritis & Rheumatism
This pharmacogenetics study analyzed 28 SNPs in methotrexate (MTX) metabolism genes (SLC19A1/RFC1, ABCB1, FPGS, GGH) in two Spanish populations with rheumatoid arthritis (n=124 and n=194). Key findings: FPGS rs10987742 and rs10106 associated with MTX response (p=0.033, p=0.041); FPGS rs10106 also associated with MTX survival (p=0.005) and toxicity (p=0.021); ABCB1 rs868755, rs10280623, rs1858923 associated with toxicity (p=0.025, p=0.048, p=0.031). In the first study, MTHFR rs17421511 (p=0.024) and rs1476413 (p=0.0086) associated with response, DHFR rs1643650 (p=0.026) associated with response, ATIC rs16853826 associated with toxicity (p=0.039).
About MTHFR
The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009]
View all MTHFR variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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