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J Dent Res 84(9):812-816, 2005
© 2005 International and American Associations for Dental Research

RESEARCH REPORT
Clinical

Polymorphisms in PTCH1 Affect the Risk of Ameloblastoma

T. Kawabata1, K. Takahashi1,*, M. Sugai2, A. Murashima-Suginami1, S. Ando1, A. Shimizu2, S. Kosugi3, T. Sato4, M. Nishida1, K. Murakami1, and T. Iizuka1

1 Kyoto University Graduate School of Medicine, Department of Oral and Maxillofacial Surgery,
2 Department of Clinical Genetics Unit,
3 Department of Biomedical Ethics, and
4 Department of Biostatistics, Graduate School of Medicine, Kyoto University, Syogoin-Kawahara-cho, Sakyou-ku, Kyoto 606-8501, Japan;

* corresponding author, takahask{at}kuhp.kyoto-u.ac.jp

Ameloblastoma is the most common odontogenic tumor, but the genetic nature of the changes in the tumor cells has been unclear. Mutations of CTNNB1 or PTCH1 are observed in many human tumors. Both CTNNB1 and PTCH1 are important in tooth development and are expressed in ameloblastoma. The aim of this study was to investigate whether genetic alterations of CTNNB1 and PTCH1 are present in ameloblastoma. We investigated 14 cases of ameloblastoma. The polymorphisms found in the ameloblastoma patients were further examined in a subsequent case-control study. We found a CTNNB1 mutation in one case of plexiform-type ameloblastoma. CGG triplet repeat-number polymorphism (CGG7/CGG8) in the 5'-untranslated region of PTCH1 was observed. The proportion of CGG8 alleles was significantly higher in the ameloblastoma group. The results of this study indicate a possible relationship between the CGG8 allele in PTCH1 and the risk for ameloblastoma.

KEY WORDS: ameloblastoma • PTCH1 • CTNNB1 • polymorphism • Mantel trend test






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