IBMS BoneKEy | BoneKEy Watch
Hwang et al. GLDN gene associated with heel bone strength in Korean populations
DOI:10.1038/bonekey.2016.36
This genome-wide association study using heel quantitative ultrasound (speed of sound [SOS]) phenotype was performed in 9158 adults from the Korean population.
The results are derived from a meta-analysis of several separate GWAS carried out in the same study, including a replication stage involving in silico look ups and de novo genotyping.
This is notable as probably the largest GWAS for SOS that has been carried out in participants with East Asian ancestry. Its findings add to our knowledge of the genetic basis of the processes of bone metabolism and how the disease state of osteoporosis arises.
The authors identified a novel intronic variant associated with SOS in the GLDN gene on chromosome 15q15, which reached genome-wide significance within the homogenous study populations. Additionally, the study replicated 10 SOS-risk loci that had been previously identified in GWAS carried out in European populations. Allele-specific epigenetic modifications were confirmed using ENCODE annotations.
Editor’s comment: The associations identified here might be ethnic-group specific, so need to be replicated in other large human samples. The top gene—GLDN (gliomedin)—is expressed by myelinating Schwann cells, but it is unclear what, if any, function it has in bone phenotypes. Functional validation of GLDN is now required.
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