Osteoporosis is a highly heritable bone disease which results in a decrease in the amount of bone mineral density, hence a very high chance of osteoporotic fractures. This study was conducted to identify the genetic loci that influence bone mineral density.
This study revealed that there is an association between bone mineral density and two single nucleotide polymorphism (SNPs). One SNP located on chromosome 8, which increases the risk of osteoporosis by 20%, and the other SNP on chromosome 11, which increases the risk by 30%. These variants increase the risk of osteoporosis by reducing bone mineral density.
These findings would enable medical practitioners to identify osteoporosis early, before the age at which fractures are likely to occur and take preventative measures. Also by using a panel of genetic markers it would be possible to identify patients who are at a higher risk of osteoporotic fractures. The research team suggested that people with this variant will respond the best to the medications which increase bone marrow density.
The findings of this study provide the genetic basis of osteoporosis, enabling scientists to investigate the mechanism in which osteoporosis proceeds.
J. B. Richards, et al., 2008, “Bone mineral density, osteoporosis, and osteoporotic features: a genome-wide association study”, Published online April 29, 2008 DOI:10.1016/S0140-6736(08)60599-1