Department of Botany, Faculty of Science, Chulalongkorn University, Bangkok 10330, Thailand.
Arch Oral Biol. 2013 Jun;58(6):583-9. doi: 10.1016/j.archoralbio.2012.10.016. Epub 2012 Nov 21.
Ameloblastoma is a common benign odontogenic tumour with inherently aggressive behaviour. Genetic susceptibility of single nucleotide polymorphism (SNP) can likely predict ameloblastoma at risk patients but this data remains limited. Here, we studied XRCC1 polymorphism as a risk factor for ameloblastoma.
Eighty-two ameloblastoma samples and blood from 140 healthy controls were used to perform polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) for XRCC1 at codons 194, 280 and 399, and confirmed by sequence analysis.
Compare to healthy control, a significant increase was noted in the occurrence of polymorphism at codon 194 and 399 in ameloblastoma patients. At codon 194, tryptophan encoded by T, was the susceptibility allele showed an ODD ratio of (95% CI)=1.62 (1.05-2.48), p=0.027. At codon 399, glycine encoded by A was the susceptibility allele showing ODD ratio of (95% CI)=1.83 (1.19-2.84), p=0.005. Moreover at codon 399, we found AG as the susceptibility genotype (2.06 (1.14-3.72), p=0.015). However, we did not find any significant increase in polymorphic occurrence in ameloblastoma patients at codon 280. For haplotype analysis of 3 codons, we found GGC as protective haplotype, and AGT as the risk haplotype.
Our data suggest that polymorphism at codons 194 and 399, likely contributes to the risk of developing ameloblastoma.
成釉细胞瘤是一种常见的具有内在侵袭性的良性牙源性肿瘤。单核苷酸多态性(SNP)的遗传易感性可能有助于预测有风险的成釉细胞瘤患者,但这方面的数据仍然有限。在这里,我们研究了 XRCC1 多态性作为成釉细胞瘤的一个风险因素。
使用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析 82 例成釉细胞瘤样本和 140 例健康对照者的 XRCC1 密码子 194、280 和 399 的多态性,并通过序列分析进行验证。
与健康对照组相比,成釉细胞瘤患者中密码子 194 和 399 的多态性发生率显著增加。在密码子 194 处,色氨酸由 T 编码,是易感性等位基因,Odds 比(95%置信区间)为 1.62(1.05-2.48),p=0.027。在密码子 399 处,A 编码的甘氨酸是易感性等位基因,Odds 比(95%置信区间)为 1.83(1.19-2.84),p=0.005。此外,在密码子 399 处,我们发现 AG 是易感性基因型(2.06(1.14-3.72),p=0.015)。然而,我们没有发现密码子 280 处的多态性发生在成釉细胞瘤患者中有显著增加。对于 3 个密码子的单体型分析,我们发现 GGC 是保护性单体型,AGT 是风险单体型。
我们的数据表明,密码子 194 和 399 的多态性可能导致成釉细胞瘤的发生风险增加。