rs3840880

This family-based association study genotyped 10 SNPs in ALOX12 and ALOX15 genes in 1,260 individuals from 401 Chinese nuclear families and tested their association with peak bone mineral density (BMD) using the quantitative transmission disequilibrium test (QTDT). rs916055 in ALOX15 was significantly associated with lumbar spine BMD (p=0.027) and rs312470 in ALOX12 was significantly associated with femoral neck BMD (p=0.029-0.036), with additional associations for rs2292350 in ALOX12 at multiple sites. The results suggest that genetic polymorphisms in ALOX12 and ALOX15 contribute to variations in peak BMD in Chinese women.

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.