Dalan Altay Burak, Timirci-Kahraman Ozlem, Turan Saime, Kafadar Ali Metin, Yaylim Ilhan, Ergen Arzu, Gormus Uzay, Gulec-Yilmaz Seda, Kaspar Cigdem, Isbir Turgay
1Yeditepe University Hospital , Istanbul , Turkey.
Int J Neurosci. 2014 Jun;124(6):443-9. doi: 10.3109/00207454.2013.850083. Epub 2013 Nov 19.
The purpose of this study was to investigate whether functional polymorphisms of apoptosis pathway genes FAS and FASL are associated with the development of primary brain tumors. The study constituted 83 patients with primary brain tumor and 108 healthy individuals. In the present case-control study, the primary brain tumors were divided into two groups: gliomas and meningiomas. Evaluation of FAS -1377 G/A and FASL -844 T/C gene polymorphisms were performed by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). To confirm the genotyping, results were examined by DNA sequencing method. Our results were analyzed by SPSS. The frequency of the FAS -1377 AA genotype was significantly lower in meningioma and glioma patients compared to controls (p = 0.023; p = 0.001, respectively). Multivariate logistic regression analysis revealed that FAS -1377 AA genotype was associated with decreased risk of meningioma and glioma (OR = 0.092, 95% CI: 0.012-0.719, p = 0.023 for meningiomas; OR = 0.056, 95% CI: 0.007-0.428, p = 0.006 for gliomas). However, there was no significant differences in FASL -844 T/C genotype frequencies between patients with primary brain tumors and controls (p > 0.05). In this study, combined genotypes were evaluated for association with primary brain tumors. Combined genotype analysis showed that the frequencies of AATC and AACC were significantly lower in glioma patients in comparison with those of controls (p = 0.023; p = 0.022, respectively). This study provides the first evidence that FAS -1377 AA genotype may have a protective effect on the developing primary brain tumor in a Turkish population.
本研究的目的是调查凋亡途径基因FAS和FASL的功能多态性是否与原发性脑肿瘤的发生有关。该研究纳入了83例原发性脑肿瘤患者和108名健康个体。在本病例对照研究中，原发性脑肿瘤被分为两组：胶质瘤和脑膜瘤。通过聚合酶链反应（PCR）和限制性片段长度多态性（RFLP）对FAS -1377 G/A和FASL -844 T/C基因多态性进行评估。为确认基因分型，采用DNA测序法检查结果。我们的结果用SPSS进行分析。与对照组相比，脑膜瘤和胶质瘤患者中FAS -1377 AA基因型的频率显著降低（分别为p = 0.023；p = 0.001）。多因素逻辑回归分析显示，FAS -1377 AA基因型与脑膜瘤和胶质瘤风险降低相关（对于脑膜瘤，OR = 0.092，95% CI：0.012 - 0.719，p = 0.023；对于胶质瘤，OR = 0.056，95% CI：0.007 - 0.428，p = 0.006）。然而，原发性脑肿瘤患者与对照组之间FASL -844 T/C基因型频率无显著差异（p > 0.05）。在本研究中，对组合基因型与原发性脑肿瘤的关联性进行了评估。组合基因型分析显示，与对照组相比，胶质瘤患者中AATC和AACC的频率显著降低（分别为p = 0.023；p = 0.022）。本研究提供了首个证据，表明在土耳其人群中，FAS -1377 AA基因型可能对原发性脑肿瘤的发生具有保护作用。
