DNA修复基因XRCC1多态性与颅底脑膜瘤易感性关联研究

Association between DNA repair gene XRCC1 polymorphism and susceptibility to skull base meningioma

摘要:

目的 探讨DNA修复基因XRCC1单核苷酸多态性(SNP)与颅底脑膜瘤易感性的关系。方法 采用病例-对照研究方法, 收集124例颅底脑膜瘤患者和218例健康对照, 运用多重单碱基延伸SNP分型(Multiplex SNaPshot)技术检测XRCC1基因rs1799782位点在脑膜瘤组和对照组中的分布情况。结果 XRCC1 rs1799782位点中CT基因型携带者患颅底脑膜瘤的风险降低(OR=0.606, 95%CI:0.374~0.982, P=0.041)。在颅底脑膜瘤组中, ≥50岁组相比<50岁组的个体, 其发病风险降低(OR=0.4160, 95%CI=0.201~0.862)。XRCC1基因rs1799782多态性与颅底脑膜瘤的生长部位、瘤周水肿、骨质破坏及硬膜侵袭之间不存在关联性(P>0.05)。结论 XRCC1基因rs1799782位点CT基因型携带者可降低颅底脑膜瘤发病风险, rs1799782多态位点可能与颅底脑膜瘤发病风险相关, 相对低龄患者更容易发病, 但仍需大样本量的颅底脑膜瘤流行病学研究加以证实。

Abstract:

Objective To investigate the association between the single nucleotide polymorphism (SNP) in XRCC1 gene and the susceptibility to skull base meningioma.Methods A total of 124 patients with skull base meningioma and 218 healthy controls were collected for this case-control study. The genotype distributions of XRCC1 SNP rs1799782 in the two groups were determined by Multiplex SNaPshot.Results The carriers of CT genotype in XRCC1 rs1799782 had a lower risk of skull base meningioma than others (OR=0.606, 95% CI: 0.374-0.982, P=0.041). In the skull base meningioma group, the individuals ≥50 years of age had a lower risk of skull base meningioma than those <50 years of age (OR=0.416, 95% CI: 0.201-0.862, P=0.017). XRCC1 rs1799782 polymorphism was not associated with tumor location, peritumoral edema, bone destruction, and dural invasion (P>0.05).Conclusions The carriers of CT genotype in XRCC1 rs1799782 have a lower risk of skull base meningioma. XRCC1 rs1799782 polymorphism may be associated with the risk of skull base meningioma. The younger patients have a higher susceptibility to skull base meningioma. However, these results need to be confirmed in epidemiological studies with larger samples.