Wang Zhen, Wen Peng, Luo Xiaojun, Fang Xiaomin, Wang Qingfeng, Ma Feng, Lv Jinhan
Department of Orthopedics, Ningxia People's Hospital, Yinchuan, Ningxia Province, 750021, People's Republic of China.
Tumour Biol. 2014 Apr;35(4):3605-10. doi: 10.1007/s13277-013-1475-7. Epub 2013 Dec 6.
Osteosarcoma (OS) is the most common bone malignancy worldwide. The vascular endothelial growth factor (VEGF) gene plays an important role in the pathogenesis of OS. The objective of this study aimed to detect the potential association between VEGF genetic polymorphisms and OS susceptibility in Chinese Han population. We recruited 330 OS patients and 342 cancer-free controls in this case-control study. Three single-nucleotide polymorphisms (SNPs) (-634 G > C, +936 C > T, and +1612 G > A) of the VEGF gene were investigated by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method and confirmed by direct DNA sequencing. Among these SNPs, we found that the genotypes/alleles of +936 C > T were statistically associated with the increased risk of OS (TT versus (vs.) CC: OR = 2.70, 95% CI 1.34-5.45, χ(2) = 8.2271, p = 0.0041; T vs. C: OR = 1.31, 95% CI 1.02-1.68, χ(2) = 4.3861, p = 0.0362). The T allele and TT genotype of +936 C > T could be factors that increase the risk for susceptibility to OS. The results from this study suggest that VEGF genetic variants are potentially related to OS susceptibility in Chinese Han population and might be used as molecular markers for assessing OS susceptibility.
骨肉瘤(OS)是全球最常见的骨恶性肿瘤。血管内皮生长因子(VEGF)基因在骨肉瘤的发病机制中起重要作用。本研究旨在检测中国汉族人群中VEGF基因多态性与骨肉瘤易感性之间的潜在关联。在这项病例对照研究中,我们招募了330例骨肉瘤患者和342例无癌对照。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法研究VEGF基因的三个单核苷酸多态性(SNP)(-634 G>C、+936 C>T和+1612 G>A),并通过直接DNA测序进行确认。在这些SNP中,我们发现+936 C>T的基因型/等位基因与骨肉瘤风险增加具有统计学相关性(TT与CC相比:OR=2.70,95%CI 1.34-5.45,χ(2)=8.2271,p=0.0041;T与C相比:OR=1.31,95%CI 1.02-1.68,χ(2)=4.3861,p=0.0362)。+936 C>T的T等位基因和TT基因型可能是增加骨肉瘤易感性风险的因素。本研究结果表明,VEGF基因变异可能与中国汉族人群的骨肉瘤易感性相关,并可能用作评估骨肉瘤易感性的分子标志物。