The clinicopathologic relevance of RECK gene polymorphisms in ameloblastoma |
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| Affiliation: | 1. Department of Physiology, Faculty of Science, Charles University in Prague, Czech Republic;2. Institute of Physiology of the Czech Academy of Sciences, Prague, Czech Republic;1. Division of Growth and Development and Section of Orthodontics, School of Dentistry, University of California, Los Angeles, CA 90095;2. Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095;3. Division of Hematology/Oncology, David Geffen School of Medicine, University of California, Los Angeles, CA 90095;4. Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095;5. UCLA and Orthopaedic Hospital Department of Orthopaedic Surgery and the Orthopaedic Hospital Research Center, Los Angeles, CA 90095;6. Division of Surgical Oncology, University of California, Los Angeles, CA 90095;7. Division of Plastic and Reconstructive Surgery, Department of Surgery, David Geffen School of Medicine, University of California, Los Angeles, CA 90095;8. Department of Pathology, Johns Hopkins University, Baltimore, MD 21205;1. Department of Radiology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA;2. Department of Radiology, University of Massachusetts Medical School, Worcester, MA, USA |
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| Abstract: | ObjectiveTo investigate the relationship between RECK gene polymorphisms and the clinicopathologic features of ameloblastoma.DesignNormal gingival mucosa specimens were obtained from 10 healthy volunteers. Ameloblastomas were surgically removed from 30 patients and part of the tumor specimens were used to detect RECK gene polymorphisms by using PCR-single-strand conformation polymorphism (PCR-SSCP) and DNA sequencing analysis. Expression of RECK and MMP-9 protein was measured using western blot.ResultsThe overall SNP rate was 46.7% (14/30). Four polymorphisms were detected in exon 9, 11, 13, 15 of the RECK gene: two synonymous (P520P and R625R) and two missense SNPs (V275I and I395 V). RECK protein expression in specimens with minor RECK SNPs was lower than that in specimens without RECK SNPs (P < 0.05), and, RECK protein expression in specimens with and without RECK SNPs was lower than that in the normal gingiva specimens (P < 0.05). MMP-9 protein expression in specimens with minor RECK SNPs was higher than that in specimens without RECK SNPs (P < 0.05), and MMP-9 protein expression in specimens with and without RECK SNPs was higher than that in normal gingiva specimens (P < 0.05). RECK gene polymorphisms were closely associated with active proliferation, capsular invasion, and clinical recurrence of ameloblastoma.ConclusionThe rs16932912(G/A) SNP in the RECK gene was closely associated with active proliferation, capsular invasion, and clinical recurrence of ameloblastoma. RECK protein expression was closely associated with the presence of the rs16932912(G/A) SNP. |
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| Keywords: | Ameloblastoma Clinicopathology Gene polymorphisms RECK MMP-9 |
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