BoneKEy Reports | BoneKEy Watch
RBMS3 versus ZNF516: interaction between SNPs in two genes impacts on BMD
DOI:10.1038/bonekey.2013.110
By choosing individuals with either very high hip bone mineral density (BMD) or very low hip BMD from two independent samples of U.S. Caucasians (n=916 and n=400, respectively), Yang et al. attempted to identify gene interactions that impact on BMD.
When results from the two samples were combined, statistical analysis identified one interacting gene pair. RBMS3 versus ZNF516 exhibited consistent and significant effects on hip BMD. The significant gene interactions occurred through rs4891159, a single nucleotide polymorphism (SNP) in ZNF516 and two SNPs, rs6549904 and rs7640046, both within RBMS3 (P=7.04 × 10−11 and 1.03 × 10−10, respectively).
Validation in two further samples, one Caucasian and one African, revealed that the interaction RBMS3 versus ZNF516 was replicated in the former sample, but although the results also showed a significant interaction in the African sample, an opposite direction of effect was noted. This ethnic difference requires further study using larger samples, the authors suggest.
Editor’s comment: Although the biological nature of the RBMS3 versus ZNF516 interaction remains unclear, statistical analyses such as the authors performed here help to highlight additional mechanisms that may be influencing osteoporosis risk, and may also be useful in studying other disorders with a complex genetic background.
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