rs1800780

This case-control study investigated associations between five NOS3 gene polymorphisms and osteonecrosis of the femoral head (ONFH) in Korean patients with systemic lupus erythematosus. Two exonic NOS3 variants were significantly associated with ONFH risk: rs1549758 (Asp258Asp) and rs1799983 (Glu298Asp, G894T) showed OR 2.7-3.8 (p=1.0×10⁻⁵-5.0×10⁻⁴). The rs1799983-rs1800780 haplotype G-A was protective (OR 0.39, p=1.6×10⁻³), while haplotype T-A increased risk (OR 3.17-3.73, p=2.0×10⁻⁵-6.0×10⁻⁴).

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.