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Zhou et al. Predicting vertebral fracture risk in Japanese women with osteoporosis
DOI:10.1038/bonekey.2016.93
Zhou et al. developed a genetic risk score (GRS) to attempt to predict the occurrence of vertebral fractures in a population of Japanese women who had all been diagnosed with osteoporosis.
They homed in on 74 genes known to confer increased susceptibility to osteoporosis and used the GRS system to locate almost 1000 single nucleotide polymorphisms (SNPs) that warranted further study.
All were assessed for their degree of association with the prevalence of vertebral fractures in the study population. Just four were shown to have a link that was significant. The minor allele of the first two—CDK5-regulatory subunit-associated protein 1-like 1 [CDKAL1; rs4712556] and protein kinase domain containing, cytoplasmic [PKDCC; rs4952590]—were protective against fracture. The two others—the G-patch domain-containing gene 1 [GPATCH1; rs10416265] and the wingless-type MMTV-integration site family member 16 [WNT16; rs2707466] were both associated with increased fracture risk.
The receiver-operating characteristic curves for GRS were adequate: areas under the curves were up to 0.788 and the authors conclude that using a GRS based on these four SNPs could be used in the clinic to identify women at the highest risk of vertebral fracture.
Editor’s comment: Interestingly, the same group previously used a GRS to predict femoral fracture risk using data from autopsy cases at a community-based geriatric hospital in Japan.
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