DNA修复基因XRCC1多态性与颅底脑膜瘤易感性关联研究

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 SNa Pshot)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(P0.05)。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。

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

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.