rs2790
This is a downstream gene variant variant in the TYMS gene.
▶GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
cerebrospinal fluid composition attribute, xylonate measurement, arabonate measurement
ribonate measurement
metabolite measurement
urinary metabolite measurement
▶ClinVar annotation
▶Research that mentions this SNP (3)
▶Genetic variant rs16430 6bp > 0bp at the microRNA‐binding site in TYMS and risk of sporadic breast cancer risk in non‐hispanic white women aged ≤55 yearsAssociationN=1,123Xiaoxiang Guan et al.(2015)· Molecular Carcinogenesis
A hospital-based case-control study of 543 breast cancer cases and 580 controls found that the TYMS rs16430 0bp variant allele was significantly associated with increased risk of breast cancer in non-Hispanic white women aged ≤55 years (adjusted OR 1.37-1.39, P = 0.009-0.010). The rs16430 variant is located at a microRNA-binding site in the TYMS 3' UTR and influences miR-561 binding, leading to altered TYMS mRNA levels.
▶Genetic variants in one‐carbon metabolism‐related genes contribute to NSCLC prognosis in a Chinese populationAssociationN=564Guangfu Jin et al.(2010)· Cancer
This association study screened 57 SNPs from 11 one-carbon metabolism genes in 564 NSCLC patients to identify genetic variants affecting lung cancer prognosis. Key findings included favorable prognostic associations for MTR rs3768160 A>G (HR=0.78, 95% CI 0.62-0.98), MTRR rs2966952 G>A (HR=0.84, 95% CI 0.71-0.99), and DHFR rs1650697 G>A (HR=0.83, 95% CI 0.70-0.99), with unfavorable prognosis for MTHFD1 rs1950902 G>A (HR=1.18, 95% CI 0.99-1.40). Combined analysis of these four SNPs demonstrated a locus-dosage effect on NSCLC survival (P trend = 6.9×10⁻⁵) and identified combined genotypes as an independent prognostic factor.
▶Folate metabolism genes, vegetable intake and renal cancer risk in central EuropeAssociationN=2,652Moore LE et al.(2008)· International Journal of Cancer
A case-control study of 1,097 renal cell carcinoma (RCC) cases and 1,555 controls in Central and Eastern Europe examined common genetic variation in 5 folate metabolism genes. Variants in MTHFR (A222V rs1801133) and TYMS (IVS2-405C rs502396) were significantly associated with RCC risk, with the MTHFR variant increasing risk (OR=1.44) particularly in groups with low vegetable intake, while TYMS variant reduced risk (OR=0.73). The associations demonstrated significant gene-nutrient interactions with vegetable consumption.
About TYMS
Thymidylate synthase catalyzes the methylation of deoxyuridylate to deoxythymidylate using, 10-methylenetetrahydrofolate (methylene-THF) as a cofactor. This function maintains the dTMP (thymidine-5-prime monophosphate) pool critical for DNA replication and repair. The enzyme has been of interest as a target for cancer chemotherapeutic agents. It is considered to be the primary site of action for 5-fluorouracil, 5-fluoro-2-prime-deoxyuridine, and some folate analogs. Expression of this gene and that of a naturally occurring antisense transcript, mitochondrial enolase superfamily member 1 (GeneID:55556), vary inversely when cell-growth progresses from late-log to plateau phase. Polymorphisms in this gene may be associated with etiology of neoplasia, including breast cancer, and response to chemotherapy. [provided by RefSeq, Aug 2017]
View all TYMS variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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