rs3819102
This is a downstream gene variant variant in the ENOSF1 gene.
▶Research that mentions this SNP (1)
▶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 ENOSF1
This gene can encode a mitochondrial enzyme that is thought to convert L-fuconate to 2-keto-3-deoxy-L-fuconate. This locus was originally identified as the source of antisense RNAs of the adjacent thymidylate synthase gene. Splice variants at this locus may contain an alternate 3' exon that is complementary to the 3'UTR and terminal intron of the thymidylate synthase (TS) RNA and may downregulate TS expression. [provided by RefSeq, Aug 2017]
View all ENOSF1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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