IBMS BoneKEy | BoneKEy Watch
Styrkarsdottir et al. New genetic signals for spine BMD and osteoporotic fracture risk
DOI:10.1038/bonekey.2016.46
Styrkarsdottir et al. performed a genome-wide association study (GWAS) in a population consisting of just over 20 000 Icelanders in order to learn more about the genetic basis of fracture risk in people with osteoporosis. Their follow up validation used just over 10 000 subjects of East-Asian or European descent.
The study produced several important findings related to spine bone mineral density signals, which could be important in assessing fracture risk in patients with osteoporosis. The first was the discovery of a novel single nucleotide polymorphism (SNP) within the PTCH1 gene, which was strongly associated with a reduction in spine BMD. A second association, between increased spine BMD and an SNP in the RSPO3 gene, was also detected. Expression of both SNPs impacted on the expression of these genes in adipose tissue and in white blood cells and both associated with osteoporotic fracture risk.
The authors also identified novel signals associated with BMD within the AXIN1 and SOST genes and a novel lead SNP within the EN1 gene. All of the signals identified warrant further investigation.
Editor’s comment: The PTCH1 gene encodes the receptor (Ptch1) for morphogens such as sonic hedgehog (SHH), indian hedgehog (IHH) and desert hedgehog (DHH). Importantly, three independent signals at the EN1 locus were recently found to be associated with hip and spine BMD.
This work is licensed under a
Creative Commons Attribution-Noncommercial-No Derivative Works 3.0 United States License.