rs4846049
This is a downstream gene variant variant in the MTHFR gene.
▶ClinVar annotation
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
View on ClinVar →▶Research that mentions this SNP (4)
▶Women who deliver twins are more likely to smoke and have high frequencies of specific SNPs: Results from a sample of African–American women who delivered preterm, low birth weight babiesAssociationN=227Hong Huang et al.(2015)· American Journal of Human Biology
In a sample of 227 African-American women with low birth weight deliveries (29 multiple pregnancies, 198 singletons), significant gene-by-environment interactions between smoking and SNPs in CYP19A, MDM4, MTHFR, and TP53 genes increased odds of twinning (OR 5.52-9.24, rs284847, rs10900595, rs4846049, rs8079544). Notably, smoking with the TP53 rs8079544 TT genotype showed profoundly increased odds of twinning (OR=62.23). A protective gene-gene interaction was found between TP53 rs8079544 (TT) and MTHFR rs4846049 (GG), reducing odds of multiple pregnancy (OR=0.316, p=0.001).
▶MTHFR rs2274976 polymorphism is a risk marker for nonsyndromic cleft lip with or without cleft palate in the Brazilian populationAssociationN=1,712Sibele Nascimento de Aquino et al.(2014)· Birth Defects Research Part A: Clinical and Molecular Teratology
Case-control study of 501 young stroke patients and 1,211 controls examining 58 polymorphisms in 17 genes involved in methionine metabolism. Multiple logistic regression identified four independent risk factors for early-onset ischaemic stroke: rs10037045 BHMT (OR 1.38, p=0.033), rs682985 BHMT2 (OR 1.46, p=0.017), rs1051319 CBS (OR 3.75, p<0.0001), and rs202680 FOLH1 (OR 3.00, p<0.0001). Haplotype analyses identified significant associations with BHMT, CBS, FOLH1, MTR, PON2, TCN2 and TYMS haplotypes and stroke risk.
▶Analysis of genetic variations in the RGS9 gene and antipsychotic‐induced tardive dyskinesia in schizophreniaReviewYing‐Jay Liou et al.(2009)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
This is a comprehensive literature review of candidate genes and their single nucleotide variants associated with antipsychotic-induced tardive dyskinesia in schizophrenia patients. The review examined genes involved in dopamine system (DRD1, DRD2, DRD3), catecholamine metabolism (COMT), serotonin system (HTR2A, HTR2C), and other pharmacodynamic and pharmacokinetic pathways. Timely identification of genetic variants in these genes could contribute to developing diagnostic tests and selecting safer antipsychotic therapy.
▶The MTHFR gene polymorphism is associated with lean body mass but not fat body massAssociationN=1,873Xiaogang Liu et al.(2008)· Human Genetics
This candidate gene association study examined five SNPs in the MTHFR gene in 405 Caucasian nuclear families (1,873 individuals) and found significant associations between MTHFR polymorphisms and lean body mass (LBM). rs2066470 (P = 0.0006), rs4846048 (P = 0.0007), and rs3737964 (P = 0.004) were associated with LBM, with rs2066470 explaining 3.67% of LBM variation. BMI associations with rs4846048 (P = 0.009) were mediated through LBM. No associations were found with fat body mass.
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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