Wang Ke, Wang Liang, Feng Jie, Hao Shuyu, Tian Kaibing, Wu Zhen, Zhang Liwei, Jia Guijun, Wan Hong, Zhang Junting
Skull Base and Brainstem Tumor Division, Department of Neurosurgery, Beijing Tian Tan Hospital, Beijing 100050, P.R. China.
Beijing Neurosurgery Institute, Capital Medical University, Beijing 100050, P.R. China.
Biomed Rep. 2014 Jul;2(4):521-524. doi: 10.3892/br.2014.275. Epub 2014 May 15.
Skull base chordoma is a rare tumor with unknown risk factors. Werner syndrome, which is caused by a mutation in the WRN gene, is a disease of progeria, resembling the pathological process of aging. The present study aimed to provide data on the possible association between skull base chordoma and the single-nucleotide polymorphism (SNP) rs1346044 of the WRN gene. Between July, 2010 and September, 2012, a total of 65 patients with pathologically confirmed skull base chordoma and 65 control subjects were enrolled in this case-control study. The clinical data of the skull base chordoma patients were documented and the rs1346044 site in all the enrolled subjects was analyzed by sequencing and statistically compared using SPSS software. The A allele was the dominant allele of the rs1346044. The comparisons of genotype distributions and allele frequencies did not reveal any significant difference between the groups [P=0.383, 95% confidence interval (CI): 0.346-1.505]. The clinicopathological factors were assessed and no statistically significant difference was observed. In conclusion, the present study suggested that there is no association between rs1346044 SNP and skull base chordomas, at least in the population analyzed.
颅底脊索瘤是一种危险因素不明的罕见肿瘤。由WRN基因突变引起的沃纳综合征是一种早衰症，类似于衰老的病理过程。本研究旨在提供关于颅底脊索瘤与WRN基因单核苷酸多态性（SNP）rs1346044之间可能关联的数据。在2010年7月至2012年9月期间，共有65例经病理确诊的颅底脊索瘤患者和65名对照受试者纳入了这项病例对照研究。记录了颅底脊索瘤患者的临床资料，并通过测序分析了所有纳入受试者的rs1346044位点，并用SPSS软件进行统计学比较。A等位基因是rs1346044的优势等位基因。基因型分布和等位基因频率的比较未发现两组之间有任何显著差异[P=0.383，95%置信区间（CI）：0.346 - 1.505]。评估了临床病理因素，未观察到统计学上的显著差异。总之，本研究表明，至少在所分析的人群中，rs1346044 SNP与颅底脊索瘤之间无关联。
