RGD Reference Report - Genetic polymorphisms and other risk factors associated with bisphosphonate induced osteonecrosis of the jaw. - Rat Genome Database

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Genetic polymorphisms and other risk factors associated with bisphosphonate induced osteonecrosis of the jaw.

Authors: Katz, J  Gong, Y  Salmasinia, D  Hou, W  Burkley, B  Ferreira, P  Casanova, O  Langaee, TY  Moreb, JS 
Citation: Katz J, etal., Int J Oral Maxillofac Surg. 2011 Jun;40(6):605-11. doi: 10.1016/j.ijom.2011.02.002. Epub 2011 Mar 10.
RGD ID: 11041182
Pubmed: PMID:21396799   (View Abstract at PubMed)
DOI: DOI:10.1016/j.ijom.2011.02.002   (Journal Full-text)

Bisphosphonate induced osteonecrosis of the jaw (BONJ) is a complication in patients taking bisphosphonate (BP) that affects their quality of life and compliance. In this cohort study, patients with multiple myeloma (MM) on intravenous BP therapy were enrolled over 1 year. Demographic and clinical data and genotyping of 10 single nucleotide polymorphisms (SNPs) from seven candidate genes associated with drug or bone metabolism were determined. Of the 78 patients enrolled, 12 had BONJ. The median time to developing BONJ was 28 months. Univariate and multivariate analysis revealed a significant association between BONJ and smoking (p=0.048) and type of BP treatment (p=0.03). A trend for higher odds for BONJ was found for SNPs in five genes: COL1A1 (rs1800012), RANK (rs12458117), MMP2 (rs243865), OPG (rs2073618) and OPN (rs11730582). Considering all five SNPs together, patients with genotype scores >/= 5 had a BONJ event rate of 57%; those with scores < 5 had a rate of 10%. The adjusted odds ratio was 11.2 (95% confidence interval of 1.8-69.9; p value 0.0097). Smoking, type of BP and combined genotype score of COL1A1, RANK, MMP2, OPG and OPN were significantly associated with BONJ in MM patients undergoing BP therapy.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
COL1A1HumanBisphosphonate-Associated Osteonecrosis of the Jaw treatmentIAGP associated with Multiple MyelomaRGD 
Col1a1RatBisphosphonate-Associated Osteonecrosis of the Jaw treatmentISOCOL1A1 (Homo sapiens)associated with Multiple MyelomaRGD 
Col1a1MouseBisphosphonate-Associated Osteonecrosis of the Jaw treatmentISOCOL1A1 (Homo sapiens)associated with Multiple MyelomaRGD 

Objects Annotated

Genes (Rattus norvegicus)
Col1a1  (collagen type I alpha 1 chain)

Genes (Mus musculus)
Col1a1  (collagen, type I, alpha 1)

Genes (Homo sapiens)
COL1A1  (collagen type I alpha 1 chain)


Additional Information