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A Genome-Wide Scan Identifies Variants in NFIB Associated with Metastasis in Patients with Osteosarcoma
Lisa Mirabello1, Roelof Koster2, Branden S Moriarity3
1Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, Maryland. mirabellol@mail.nih.gov.
Cancer Discovery
|June 19, 2015
Summary
A genetic variation in the NFIB gene (rs7034162) is linked to osteosarcoma metastasis risk. Lowered NFIB expression increases cancer cell spread, suggesting NFIB is a key gene in osteosarcoma metastasis.
Area of Science:
- Genetics
- Oncology
- Molecular Biology
Background:
- Metastasis is the primary cause of death in pediatric osteosarcoma patients.
- Understanding the genetic factors influencing osteosarcoma metastasis is crucial for improving patient outcomes.
Purpose of the Study:
- To investigate the role of germline genetic variation in osteosarcoma metastasis.
- To identify specific genetic variants associated with the risk of metastasis at diagnosis.
Main Methods:
- A multistage genome-wide association study (GWAS) was performed on 935 osteosarcoma patients.
- Analysis included cases of European, African, and Brazilian ancestry.
- Functional studies assessed the impact of genetic variation on NFIB gene expression and cell behavior.
Main Results:
- A single nucleotide polymorphism (SNP), rs7034162, in the NFIB gene was significantly associated with osteosarcoma metastasis across diverse ancestries.
- The risk allele correlated with reduced NFIB expression, promoting increased osteosarcoma cell migration, proliferation, and colony formation.
- Mouse models confirmed inactivating insertions in Nfib and reduced NFIB expression in osteosarcomas.
Conclusions:
- Germline genetic variation at rs7034162 in NFIB is a significant factor in osteosarcoma metastasis.
- The NFIB gene is implicated as an osteosarcoma metastasis susceptibility gene.
