NF2基因多态性与脑膜瘤预后的相关性

Association between NF2 gene polymorphism and susceptibility to meningioma

目的探讨神经纤维瘤病Ⅱ型(NF2)基因多态性与中国人群脑膜瘤易感性及脑膜瘤患者预后的相关性。方法选取2010年5月-2011年1月在首都医科大学附属北京天坛医院神经外科中心接受手术治疗且经病理学检查确诊为脑膜瘤的215例患者为研究对象,应用SNaPshot基因分型技术对NF2基因多态位点rs2530673和rs2530662进行基因分型,分析NF2基因多态性与脑膜瘤预后的相关性。结果NF2基因rs2530673和rs2530662多态性与脑膜瘤易感性相关不显著(P>0.05)。按照WHOⅠ级病理亚型分层,在显性遗传模型下,携带NF2基因rs2530673位点CC基因型的人群发生过渡型脑膜瘤的风险降低(OR=0.506,95%CI 0.266~0.962,P=0.036);NF2基因rs2530673和rs2530662位点多态性与脑膜瘤术后复发相关不显著(P>0.05)。按肿瘤部位分层,在非颅底脑膜瘤组中,NF2基因rs2530673位点多态性与脑膜瘤术后复发相关(P<0.05),携带rs2530673位点CC基因型的脑膜瘤患者术后无进展生存时间缩短,复发风险增高(P<0.05)。多因素分析结果显示,NF2基因多态位点不是脑膜瘤预后的影响因素(P>0.05)。结论NF2基因rs2530673中C等位基因可能是过渡型脑膜瘤发病的保护性因素。NF2基因rs2530673和rs2530662多态性可能与脑膜瘤不相关;但在非颅底脑膜瘤中,NF2基因rs2530673位点多态性可能与肿瘤术后复发相关,且rs2530673位点CC基因型携带者术后复发风险增高。

Objective The study aimed to investigate the association between the genetic variant of neurofibromatosis 2(NF2)gene and susceptibility to meningioma in Chinese population and analyze the correlation between NF2 gene polymorphism and meningioma.Methods 215 patients who had underwent neurosurgical treatment and been histologically diagnosed as meningioma were included as the case group in Department of Neurosurgery,Beijing Tiantan Hospital affiliated to Capital Medical University between May 2010 to January 2011.The NF2 gene polymorphisms including rs2530673 and rs2530662 were analyzed by Multiplex SNaPshot methods.The correlation between NF2 gene polymorphism and prognosis of meningioma was analyzed.Results The NF2 gene polymorphisms rs2530673 and rs2530662 are not significant associated with the susceptibility to meningioma(P>0.05).According to the WHO grade I pathological subtypes,the result of stratification analysis showed that the patients carrying NF2 gene polymorphism loci rs2530673 CC genotype reduced the risk of transitional meningiomas in the dominant model distribution(OR=0.506,95%CI 0.266-0.962,P=0.036).Besides,no significant association was found between NF2 gene polymorphism loci rs2530673 and rs2530662 and the recurrence of meningioma(P>0.05).For tumor location,the result of stratification analysis showed that the rs2530673 polymorphism of NF2 gene was associated with postoperative recurrence of meningiomas and patients carrying the rs2530673 CC genotype had shorter progression free survival time and higher recurrence risk in non-skull base meningiomas(all P<0.05).No significant correlation was found between rs2530673/rs2530662 polymorphisms and the prognosis of meningioma(P>0.05).Conclusions The C allele of rs2530673 may be a protective factor for the oneset of transitional meningioma.There may be no significant association between NF2 gene rs2530673/rs2530662 polymorphisms and the susceptibility in meningioma.However,the rs2530673 polymorphism of NF2 gene was associated with postoperative recurrence of meningiomas and patients carrying the rs2530673 CC genotype had higher recurrence risk in non-skull base meningiomas.