rs55763075
This variant is located in the MTHFR gene.
▶Research that mentions this SNP (1)
▶The SNP rs4846048 of MTHFR enhances the cervical cancer risk through association with miR‐522: A preliminary reportAssociationN=277Xinyue Zhou et al.(2020)· Molecular Genetics & Genomic Medicine
This case-control association study of 277 participants (197 patients with cervical cancer/precancerous lesions, 80 controls) found that MTHFR SNP rs4846048 is associated with elevated cervical cancer risk (AG and G allele frequencies significantly higher in CC vs controls, OR 2.62 for AG genotype). Mechanistically, the study demonstrated through luciferase reporter assays and cell transfection experiments that the rs4846048 A/G alleles promote binding of microRNA-522 (miR-522) to MTHFR's 3'-UTR, and that miR-522 overexpression downregulates MTHFR expression and increases cell viability while decreasing apoptosis in HeLa cells.
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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