Study findings demonstrated that germline variation influences the development of bone disease in patients with multiple myeloma and highlighted the importance of the RANK/RANKL/OPG pathway in bone disease development.1
Investigators sought to identify genetic variants that may influence the development of osteolytic lesions, fractures, and bone pain, which are common complications of multiple myeloma.
A total of 3774 patients with multiple myeloma of European ancestry were genotyped for approximately 600 000 single-nucleotide polymorphisms with genotypes for 6 million common variants imputed using 1000 Genomes Project and UK10K as reference.
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A locus for multiple myeloma bone disease was located at 8q24.12 (rs4407910, OPG/TNFRSF11B, odds ratio = 1.38; P = 4.09 x 10-9). A “promising” association was found at 19q13.43 (rs74676832; odds ratio, 1.97; P = 9.33 x 10-7).
The authors concluded that their findings will contribute to the development of future strategies for prevention of multiple myeloma bone disease in the early precancerous phases of the disease.
- Johnson DC, Weinhold N, Mitchell J, et al. Genetic factors influencing the risk of multiple myeloma bone disease [published online ahead of print January 12, 2016]. Leukemia. doi: 10.1038/leu.2015.342.