半胱天冬酶-9基因Ex5+32 G>A（rs1052576）变异在原发性脑肿瘤易感性中的作用。
Role of Caspase-9 Gene Ex5+32 G>A (rs1052576) Variant in Susceptibility to Primary Brain Tumors.
作者信息
Ozdogan Selcuk, Kafadar Ali, Yilmaz Seda Gulec, Timirci-Kahraman Ozlem, Gormus Uzay, Isbir Turgay
机构信息
Department of Neurosurgery, Dr. Lutfi Kirdar Kartal Training and Research Hospital, Istanbul, Turkey.
Department of Neurosurgery, Cerrahpaşa Medical Faculty, Istanbul University, Istanbul, Turkey.
出版信息
Anticancer Res. 2017 Sep;37(9):4997-5000. doi: 10.21873/anticanres.11912.
BACKGROUND/AIM: This study is the first to evaluate the relationship of caspase-9 (CASP-9) gene polymorphism with the risk for primary brain tumor development.
MATERIALS AND METHODS
The study group included 43 glioma and 27 meningioma patients and 76 healthy individuals. CASP-9 gene Ex5+32 G>A (rs1052576) polymorphism was analyzed by real-time polymerase chain reaction (RT-PCR).
RESULTS
Individuals with the CASP-9 GG genotype had significantly decreased risk of developing a glioma brain tumor (p=0.024). Additionally, the GA genotype was significantly lower in patients with glioma than the control group (p=0.019). A significantly decreased risk of developing glioma was found in the A allele carrier group (p=0.024). However, there was no statistically significant relationship between CASP-9 polymorphism and brain meningioma (p=0.493).
CONCLUSION
CASP-9 (rs1052576) mutant A allele seems to be a protective factor for glioma brain tumor. Future studies with a larger sample size will clarify the possible roles of CASP-9 gene in the etiology and progression of primary brain tumors.
背景/目的：本研究首次评估半胱天冬酶-9（CASP-9）基因多态性与原发性脑肿瘤发生风险之间的关系。
材料与方法
研究组包括43例神经胶质瘤患者、27例脑膜瘤患者和76名健康个体。采用实时聚合酶链反应（RT-PCR）分析CASP-9基因Ex5+32 G>A（rs1052576）多态性。
结果
携带CASP-9 GG基因型的个体发生神经胶质瘤脑肿瘤的风险显著降低（p=0.024）。此外，神经胶质瘤患者的GA基因型显著低于对照组（p=0.019）。在A等位基因携带者组中，发生神经胶质瘤的风险显著降低（p=0.024）。然而，CASP-9多态性与脑膜瘤之间无统计学显著关系（p=0.493）。
结论
CASP-9（rs1052576）突变A等位基因似乎是神经胶质瘤脑肿瘤的保护因素。未来更大样本量的研究将阐明CASP-9基因在原发性脑肿瘤病因学和进展中的可能作用。
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