This genome-wide association study investigating the influence of common variants on osteoporosis found an association of this variant with decreased bone mineral density. Replicates investigating 99 high-significance SNPs (39 lumbar, 60 femoral) found a p-value of 1.2*10^-6 for this variant. Each allele was associated with a -0.12 standard deviation in lumbar spine bone density.
The rs3736228 was also associated with an increased risk of osteoporotic fracture, with a combined odds ratio of 1.3, p = 0.02.
1244 young Chinese men from 411 Chinese nuclear families were PCR-genotyped at the Q89R, N740N, and A1330 sites in the gene. This was done to test the effect of Lipoprotein Receptor-related Protein 5 mutations on obesity and bone density in young Chinese men. The results of this investigation suggest that common polymorphisms of the LRP5 gene do not significantly influence bone mass and/or obesity.