rs495139

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.

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.