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血管内皮生长因子(VEGF)基因中的单核苷酸多态性与骨肉瘤风险增加相关。

Single nucleotide polymorphisms in VEGF gene are associated with an increased risk of osteosarcoma.

作者信息

Tie Zhang, Bai Rui, Zhai Zhongwen, Zhang Gang, Zhang Hong, Zhao Zhenqun, Zhou Deshan, Liu Wanlin

机构信息

Department of Human Anatomy Histology and Embryology, School of Basic Medicine, Capital Medical University Beijing, China.

Department of Pediatric Orthopedics, The Second Affiliated Hospital of Inner Mongolia Medical University Hohhot, China.

出版信息

Int J Clin Exp Pathol. 2014 Oct 15;7(11):8143-9. eCollection 2014.

Abstract

We aimed to assess whether the five common SNPs can affect the risk of osteosarcoma, and its association with demographic characteristics of osteosarcoma. 165 osteosarcoma patients and 330 cancer-free controls were enrolled into our study. Five common SNPs in VEGF gene, -2578C/A (rs699947), -1156G/A (rs1570360), +1612G/A (rs10434), +936C/T (rs3025039) and -634G/C (rs2010963), were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Conditional logistic regression analyses found that individuals with AA genotype and A allele of rs699947 were associated with an increased risk of osteosarcoma. Individuals with GG genotype and G allele of rs2010963 were associated with an increased risk of osteosarcoma. By stratified analysis, AA genotype of rs699947 was associated with an increased risk of osteosarcoma in those with shorter age, males and a family history of cancer, and GG genotype of rs2010963 was correlated with an increased risk of osteosarcoma in those with shorter age, females and a family history of cancer. Our study suggests that rs699947 and rs2010963 polymorphisms may play a role in the pathogenesis of osteosarcoma.

摘要

我们旨在评估这五个常见单核苷酸多态性(SNP)是否会影响骨肉瘤风险及其与骨肉瘤人口统计学特征的关联。165例骨肉瘤患者和330例无癌对照纳入我们的研究。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)检测血管内皮生长因子(VEGF)基因中的五个常见SNP,即-2578C/A(rs699947)、-1156G/A(rs1570360)、+1612G/A(rs10434)、+936C/T(rs3025039)和-634G/C(rs2010963)。条件逻辑回归分析发现,rs699947的AA基因型和A等位基因个体与骨肉瘤风险增加相关。rs2010963的GG基因型和G等位基因个体与骨肉瘤风险增加相关。通过分层分析,rs699947的AA基因型在年龄较小、男性和有癌症家族史的人群中与骨肉瘤风险增加相关,rs2010963的GG基因型在年龄较小、女性和有癌症家族史的人群中与骨肉瘤风险增加相关。我们的研究表明,rs699947和rs2010963多态性可能在骨肉瘤发病机制中起作用。

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