rs111352217 - CLIP2 - GTF2IRD1

Magnitude 4.5 · 1 study on file

Reported associations

  • Genome‐wide Association Study Identified Chromosome 8 Locus Associated with Medication‐Related Osteonecrosis of the Jaw - Unknown journal (n.d.) · Unknown authors · PubMed 34390503

    ABSTRACT: Medication‐related osteonecrosis of the jaw (MRONJ) is a rare but serious drug‐related adverse event. To identify pharmacogenomic markers of MRONJ associated with bisphosphonate therapy, we conducted a genomewide association study (GWAS) meta‐analysis followed by functional analysis of 5,008 individuals of European ancestry treated with bisphosphonates, which includes the largest number of MRONJ cases to date (444 cases and 4,564 controls). Discovery GWAS was performed in randomly selected 70% of the patients with cancer and replication GWAS was performed in the remaining 30% of the patients with cancer treated with intravenous bisphosphonates followed by meta‐analysis of all 3,639 patients with cancer. GWAS was also performed in 1,369 patients with osteoporosis treated w


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Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Discuss with your doctor

  • pharmacogenetic risk and bisphosphonate therapy Moderate

    rs111352217 is associated with 7-fold increased osteonecrosis risk in osteoporosis patients taking oral bisphosphonates

    Before starting or continuing oral bisphosphonates, discuss this genetic finding with prescriber to evaluate risks vs. benefits

Screening

  • osteonecrosis of jaw during bisphosphonate treatment Low

    Given increased genetic risk, early detection of bone exposure or delayed healing in jaw may enable earlier intervention

    Report to doctor any jaw pain, swelling, exposed bone, or slow-healing mouth wounds