Polymorphisms in PTCH1 affect the risk of ameloblastoma
Polymorphisms in PTCH1 affect the risk of ameloblastoma
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DOI：
10.1177/154405910508400906
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发表时间：
2005-09-01
影响因子：
7.6
通讯作者：
Iizuka, T
中科院分区：
文献类型：
--
作者：
Kawabata, T;Takahashi, K;Iizuka, T
成釉细胞瘤是最常见的牙源性肿瘤，但肿瘤细胞变化的遗传性质尚不清楚。在许多人类肿瘤中观察到 CTNNB1 或 PTCH1 的突变。 CTNNB1 和 PTCH1 在牙齿发育中都很重要，并且在成釉细胞瘤中表达。本研究的目的是调查成釉细胞瘤中是否存在 CTNNB1 和 PTCH1 的基因改变。我们调查了 14 例成釉细胞瘤病例。在随后的病例对照研究中进一步检查了成釉细胞瘤患者中发现的多态性。我们在一例丛状型成釉细胞瘤病例中发现了 CTNNB1 突变。在 PTCH1 的 5'-非翻译区观察到 CGG 三联体重复数多态性 (CGG7/CGG8)。成釉细胞瘤组中 CGG8 等位基因的比例显着较高。这项研究的结果表明 PTCH1 中的 CGG8 等位基因与成釉细胞瘤风险之间可能存在关系。
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.