BRIP1基因多态性与脑膜瘤易感性的关系

目的探讨BRIP1基因多态性与脑膜瘤发病风险的关联。方法运用多重SNaPshot分型技术对205例脑膜瘤病人和195例健康成年人的BRIP1基因rs4968451位点进行基因分型,比较脑膜瘤与健康人群之间BRIP1基因rs4968451位点基因频率分布差异,并根据性别、年龄及临床表型进行分层分析。结果 BRIP1基因rs4968451位点基因型和等位基因频率在脑膜瘤和正常人群之间分布均无统计学差异(均P>0.05)。按性别分层分析,男性脑膜瘤病人中GG基因型频率低于正常人,GT基因型频率显著高于正常人(均P<0.05);女性脑膜瘤病人中GG基因型频率显著高于正常人(P<0.05)。按年龄分层分析,不同年龄组间脑膜瘤和正常人的基因型与等位基因频率分布无显著差异(均P>0.05)。与矢状窦旁和大脑镰旁脑膜瘤相比,携带GG基因型的脑膜瘤病人肿瘤好发于蝶骨嵴(P<0.05)。结论 BRIP1基因rs4968451位点可能与脑膜瘤的发病风险无关,但GG基因型可能增加女性人群脑膜瘤的发病风险,并且脑膜瘤病人中GG基因型携带者肿瘤好发于蝶骨嵴。

Association between polymorphism of BRIP1 gene and susceptibility of meningioma

Objective To investigate the association between the polymorphism ofBRIP1 gene and risk ofmeningioma. Methods Two hundred and five patients with meningioma and 195 healthy adults were recruited in this study. The genotype of polymorphic locus rs4968451 of BRIP1 gene was studied by multiplex SNaPshot method. The frequency distribution of rs4968451 of BRIP1 gene was compared between meningioma patients and healthy adults, and stratified analysis was also conducted according to gender, age and clinical phenotype. Results There was no significant difference in frequency distribution of genotypes and allels of rs4968451 between the two groups （all P 〉 0.05）. Compared with healthy adults, the frequency of GG genotype in male patients with meningioma was lower and the frequency of GT genotype was higher （both P 〈 0.05）, the frequency of GG genotype in female patients with meningioma was higher （P 〈 0.05） according to stratified analysis in gender. There was no difference in frequency distribution of genotypes and allels between meningioma and healthy adults with different ages （all P 〉 0.05）. Compared with parasagittal and falx meningioma, tumors site of patients with GG genotype was more common in the sphenoid ridge （P 〈 0.05）. Conclusions The polymorphic locus rs4968451 of BRIP1 gene may not correlate with the risk of meningioma, however, GG genotype may increase the risk of meningioma in female population and the meningioma patients with pure GG genotype is mostly localized in the sphenoid ridge.