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Identifying genetic variants underlying medication-induced osteonecrosis of the jaw in cancer and osteoporosis: a case control study.


ABSTRACT:

Background

Bisphosphonate-induced osteonecrosis of the jaw (BRONJ) presents with a typical pattern of jaw necrosis in patients who have been prescribed bisphosphonates (BPs) and other antiangiogenetic drugs to treat osteoporosis or bone-related complications of cancer.

Methods

This study divided 38 patients with BRONJ into two groups according to the prescribing causes: cancer (n = 13) and osteoporosis (n = 25), and underwent whole exome sequencing and compared them with normal controls (n = 90). To identify candidate genes and variants, we conducted three analyses: a traditional genetic model, gene-wise variant score burden, and rare-variant analysis methods.

Results

The stop-gain mutation (rs117889746) of the PZP gene in the BRONJ cancer group was significantly iden

SUBMITTER: Lee KH 

PROVIDER: S-EPMC6868688 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature