rs502396
This is a upstream gene variant variant in the TYMS gene.
▶Research that mentions this SNP (5)
▶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.
▶Conotruncal heart defects and common variants in maternal and fetal genes in folate, homocysteine, and transsulfuration pathwaysAssociationN=4,648Charlotte A. Hobbs et al.(2014)· Birth Defects Research Part A: Clinical and Molecular Teratology
This case-control study of 616 conotruncal heart defect (CTD) case families and 1,645 control families identified 17 maternal and 17 fetal SNPs associated with CTD risk (BFDP ≤0.80). Key findings included 10 maternal SNPs in GCLC (rs572494 with BFDP=0.15), 4 fetal SNPs in TYMS (rs2612101, rs2847607, rs2847326, rs2847324), and evidence that maternal periconceptional folic acid supplementation modified SNP-CTD associations. The study evaluated 921 SNPs across 60 genes in folate, homocysteine, and transsulfuration pathways.
▶Maternal and infant gene–folate interactions and the risk of neural tube defectsAssociationN=676Analee J. Etheredge et al.(2012)· American Journal of Medical Genetics Part A
Case-control study (222 cases, 454 controls) examining gene-folate interactions in five folate-related genes (MTHFD1, MTHFR, SHMT1, DHFR, TYMS) and neural tube defect risk. Maternal MTHFR SNPs rs1476413, rs1801131, and rs1801133 showed decreased NTD risk with low folate intake (OR=0.55-0.69, 80% CI); infant MTHFD1 SNPs rs2236224, rs2236225, and rs11627387 showed increased risk (OR=1.53-4.25, 80% CI); maternal SHMT1 rs669340 showed protective gene-only effect (OR=0.69, 95% CI: 0.49-0.96).
▶Folate pathway and nonsyndromic cleft lip and palateAssociationN=445Susan H. Blanton et al.(2011)· Birth Defects Research Part A: Clinical and Molecular Teratology
This family-based association study examined 14 folate pathway genes using 89 SNPs in 445 NSCLP families (317 non-Hispanic White, 128 Hispanic) to identify genetic variants contributing to nonsyndromic cleft lip and palate. Evidence for association was found with SNPs in NOS3 and TYMS in the non-Hispanic White group (rs2373929/NOS3, rs502396/TYMS, and others), and with MTR, BHMT2, MTHFS, and SLC19A1 in the Hispanic group (rs1422086/BHMT2, rs2115540/MTHFS significant after Bonferroni correction). Multiple gene-gene interactions were detected, with CBS and MTHFD1 showing the most extensive interactions. Significant interactions were also found between several SNPs and maternal smoking and one SNP (rs651646/FOLR2) with offspring sex.
▶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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