rs2394443
This is a regulatory region variant variant in the SIRT1 gene.
▶Research that mentions this SNP (1)
▶SIRT1 Gene SNP rs932658 Is Associated With Medication-Related Osteonecrosis of the JawAssociationN=104Yang G. et al.(2020)· Journal of Bone and Mineral Research
This case-control study of 104 cancer patients (46 MRONJ cases, 58 controls) validated three SIRT1 promoter SNPs (rs3758391, rs932658, rs2394443) as functional variants associated with medication-related osteonecrosis of the jaw (MRONJ) risk in patients treated with bisphosphonates. The minor alleles of these SNPs were associated with lower odds for MRONJ (OR=0.351, p=0.007 for rs932658; OR=0.351, p=0.007 for rs3758391; OR=0.331, p=0.0036 for rs2394443). Luciferase reporter assays confirmed that rs932658 variant allele A increases SIRT1 promoter activity, suggesting the protective mechanism involves increased SIRT1 expression.
About SIRT1
This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]
View all SIRT1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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