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SIRT1 gene SNP rs932658 is associated with medication‐related osteonecrosis of the jaw

Journal of Bone and Mineral Research Feb 26, 2021

Yang G, Collins JM, Rafiee R, et al. - Since the previous whole‐exome sequencing study discovered SIRT1 intronic region single‐nucleotide polymorphism (SNP) rs7896005 to be associated with medication‐related osteonecrosis of the jaw (MRONJ) in cancer patients treated with intravenous (iv) bisphosphonates (BPs), researchers sought to identify functional SNPs in high linkage disequilibrium with the index SNP that might be causal SNPs for this association in a retrospective case-control study. They identified three promoter region SNPs, rs3758391 (C > T), rs932658 (C > A), and rs2394443 (C > G) in the SIRT1 gene that were associated with lower odds of developing MRONJ among cancer patients who were treated with iv BPs for the prevention of SREs. Such findings suggest that the promoter SNP rs932658 regulates the expression of SIRT1 and presumably reduces the risk of MRONJ by increasing SIRT1 expression.

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