rs11771443
This is a regulatory region variant variant in the NOS3 gene.
▶Research that mentions this SNP (1)
▶Endothelial nitric oxide synthase gene polymorphisms and the risk of osteonecrosis of the femoral head in systemic lupus erythematosusAssociationN=506Hak Soo Kim et al.(2013)· International Orthopaedics
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).
About NOS3
Nitric oxide is a reactive free radical which acts as a biologic mediator in several processes, including neurotransmission and antimicrobial and antitumoral activities. Nitric oxide is synthesized from L-arginine by nitric oxide synthases. Variations in this gene are associated with susceptibility to coronary spasm. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Oct 2016]
View all NOS3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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