rs1059394
This is a downstream gene variant variant in the TYMS gene.
▶Research that mentions this SNP (3)
▶Association ofPSCArs2294008 gene variants with poor prognosis and increased susceptibility to gastric cancer and decreased risk of duodenal ulcer diseaseAssociationN=1,747María Asunción García-González et al.(2015)· International Journal of Cancer
A case-control study of 1,115 gastric cancer (GCa) cases and 1,172 controls from Eastern China examined whether 42 common genetic variants associated with GCa susceptibility predict patient prognosis. A weighted genetic risk score (GRS) was constructed and tested in 633 GCa cases using Cox proportional hazards regression. The results found no significant association between increasing GRS and risk of death (low vs medium: HR=0.87, P=0.349; high vs medium: HR=0.97, P=0.847), and GRS did not improve prognostic prediction beyond clinical factors alone (C-index 0.78 vs 0.78, P=0.986). Genetic variants associated with gastric cancer susceptibility do not appear to predict worse prognosis in Chinese gastric cancer patients.
▶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 polymorphisms in the microRNA binding‐sites of the thymidylate synthase gene predict risk and survival in gastric cancerAssociationN=1,905Rong Shen et al.(2015)· Molecular Carcinogenesis
This case-control study of 605 glioma patients and 1,300 controls found that TYMS rs1059394 (C>T) TT and CT+TT genotypes were associated with significantly decreased glioma risk (OR=0.71, 95% CI=0.52-0.97, P=0.03 for TT; OR=0.74, 95% CI=0.55-0.99, P=0.04 for CT+TT). In high-grade gliomas, rs2847153 (G>A) GA and GA+AA genotypes were significantly increased compared to GG (OR=2.01, 95% CI=1.39-2.91, P<0.001 for GA; OR=1.78, 95% CI=1.25-2.54, P<0.001 for GA+AA). eQTL analysis suggested these polymorphisms alter TYMS gene expression.
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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