CASP8基因rs6723097和rs13113位点与脑膜瘤易感性的关联研究

Association between polymorphisms of CASP8 rs6723097, rs13113 and susceptibility of meningioma

摘要:

目的 探讨中国人群CASP8基因多态性rs6723097、rs13113与脑膜瘤易感性的关系。方法 采用病例对照研究方法，收集205例脑膜瘤患者和195例健康对照，运用多重SNaPshot分型技术进行多态性检测，比较基因型和等位基因在脑膜瘤组和对照组中的分布频率。分析CASP8基因rs6723097和rs13113与脑膜瘤临床表型的关联性。结果 CASP8基因rs6723097位点基因型GG、GT、TT在脑膜瘤组分布频率为23.4%、47.3%、29.3%，在对照组中为22.6%、51.3%、26.2%；rs13113位点基因型AA、AT、TT在脑膜瘤组分布频率为22.0%、49.8%、28.3%，在对照组中为24.1%、51.3%、24.6%。未见两位点多态与脑膜瘤发病风险存在关联（P>0.05）。多态性位点间的连锁不平衡检验显示rs6723097和rs13113位点呈连锁不平衡（D’=0.901）。在脑膜瘤不同临床表型之间，rs6723097和rs13113位点基因型频率分布无明显统计学差异（P>0.05）。结论 在中国人群中CASP8基因rs6723097和 rs13113位点遗传变异与脑膜瘤发病风险可能无关联。

Abstract:

Objective To investigate the association between two single nucleotide polymorphisms, rs6723097 and rs13113, of apoptosis regulatory gene CASP8 and the susceptibility to meningioma in Chinese population.Methods The study was designed as a case-control study. 205 meningioma patients and 195 healthy controls were collected. The SNPs(including rs6723097 and rs13113) of CASP8 gene were analyzed by Multiplex SNaPshot methods. The distributions of genotype frequencies and allele frequencies were calculated and compared in the meningioma group and control group. The relationship between different genotypes of the two SNPs(including rs6723097 and rs13113) and the clinical phenotypes of meningioma was analyzed.Results The genotype frequencies of GG,GT,TT of CASP8 rs6723097 were 23.4%, 47.3%, 29.3% in meningioma group and 22.6%, 51.3%, 26.2% in control group. The genotype frequencies of AA,AT,TT of CASP8 rs13113 were 22.0%,49.8%,28.3% in meningioma group and 24.1%,51.3%,24.6% in control group. No significant associations were found between these two polymorphisms and meningioma. Pairwise Linkage disequilibrium analyses showed that the polymorphic loci between rs6723097 and rs13113 were in strong Linkage disequilibrium(D'=0.901).The SNPs(including rs6723097 and rs13113) of CASP8 gene showed no difference of genotype distribution in different clinical phenotypes of meningioma.Conclusions The genetic variation of CASP8 rs6723097 and rs13113 may not play an important role in the susceptibility of meningioma in Chinese population.