Brant Ommo, Hoffmann Markus, Kanappilly Anthony, Görögh Tibor, Gottschlich Stefan
Department of Otorhinolaryngology, Head and Neck Surgery, Christian Albrechts University Kiel, D-24105 Kiel, Germany.
Anticancer Res. 2007 Sep-Oct;27(5A):3301-5.
The impact of codon 72 polymorphism of the human tumour suppressor gene p53 on the risk of developing squamous cell carcinomas of the head and neck (HNSCC) remains unclear because of contradictory results found by several studies.
We genotyped a group of 77 patients with advanced HNSCC by using a direct sequencing method.
There were no significant differences in the age of the patients at the time of the first diagnosis nor in the 5-year survival rates. There was no additive effect between different risk factors (alcohol, nicotine) and codon 72 polymorphism. Compared to the frequency of homozygosity encoding for Arg/Arg in the Eurasian population given in literature, the present study has shown a significantly higher frequency of homozygosity for Arg/Arg at codon 72 than commonly detected.
These findings may indicate codon 72 polymorphism as a risk factor for HNSCC or point to a high variability of codon 72 polymorphism among ethnic groups.
由于多项研究结果相互矛盾，人类肿瘤抑制基因p53密码子72多态性对头颈部鳞状细胞癌（HNSCC）发生风险的影响仍不明确。
我们采用直接测序法对一组77例晚期HNSCC患者进行基因分型。
患者首次诊断时的年龄以及5年生存率均无显著差异。不同风险因素（酒精、尼古丁）与密码子72多态性之间不存在相加效应。与文献中给出的欧亚人群中编码精氨酸/精氨酸的纯合子频率相比，本研究显示密码子72处精氨酸/精氨酸纯合子的频率显著高于通常检测到的频率。
这些发现可能表明密码子72多态性是HNSCC的一个风险因素，或者表明密码子72多态性在不同种族群体中具有高度变异性。
