rs312466
This variant is located in the ALOX12 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Polymorphisms in the ALOX12 gene and osteoporosisAssociationN=2,525Harsløf T. et al.(2011)· Osteoporosis International
This candidate gene study investigated ten polymorphisms in the ALOX12 gene for associations with bone mineral density (BMD) and osteoporotic fractures in two Danish cohorts (AROS case-control with 809 individuals, DOPS prospective with 1,716 perimenopausal women). In AROS, heterozygotes for rs3840880, rs9897850, rs2292350, and rs1126667 showed 3.0-4.7% decreased lumbar spine BMD and significantly increased vertebral fracture risk (OR 1.46-1.64), while DOPS found no individual SNP associations but a protective haplotype (block1-haplo4) was associated with decreased bone loss and fracture risk. Meta-analysis across cohorts showed no significant effects, though the findings suggest ALOX12 variants may influence BMD and fracture susceptibility.
About ALOX12
This gene encodes a member of the lipoxygenase family of proteins. The encoded enzyme acts on different polyunsaturated fatty acid substrates to generate bioactive lipid mediators including eicosanoids and lipoxins. The encoded enzyme and its reaction products have been shown to regulate platelet function. Elevated expression of this gene has been observed in pancreatic islets derived from human diabetes patients. Allelic variants in this gene may be associated with susceptibility to toxoplasmosis. Multiple pseudogenes of this gene have been identified in the human genome. [provided by RefSeq, Aug 2017]
View all ALOX12 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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