Ay Arzu, Alkanli Nevra, Cevik Gokhan
Department of Biophysics, Faculty of Medicine, Trakya University, 22030 Edirne, Turkey.
Department of Biophysics, Faculty of Medicine, Haliç University, 34060 Istanbul, Turkey.
Indian J Clin Biochem. 2024 Jan;39(1):92-100. doi: 10.1007/s12291-022-01090-4. Epub 2022 Oct 3.
The aim of this study is to determine the roles of eNOS gene variations in BCA development. Our study included 91 patients diagnosed with BCA and 91 healthy controls. eNOS 4VNTR (4a/b), T786C and G894T gene variations genotype distributions were determined by PCR and RFLP methods. The significant difference was determined between these groups in terms of eNOS T786C and eNOS G894T gene variations genotype distributions ( < 0.05). TT genotype for G894T gene variation and CC genotype for T786C gene variation were detected higher in patients. The CC genotype of T786C gene variation was detected significantly higher in male patients than in male controls ( < 0.05). In addition, aa-TT, ab-TT, bb-TT haplotypes of 4VNTR (4a/b)-G894T gene variations, aa-CC, ab-CC, bb-CC haplotypes of 4VNTR (4a/b)-T786C gene variations and TT-TT, TT-CC, TT-CT, GG-CC, GT-CC haplotypes of G894T-T786C gene variations were observed in patient group more than control group. The significant difference was detected between these groups in terms of eNOS (G894T-T786C) haplotypes ( < 0.05). In our study, eNOS T786C and eNOS G894T gene variations were determined important genetic risk factor in the Thrace population of Turkey.
本研究的目的是确定内皮型一氧化氮合酶（eNOS）基因变异在膀胱癌（BCA）发生发展中的作用。我们的研究纳入了91例被诊断为膀胱癌的患者和91名健康对照者。采用聚合酶链反应（PCR）和限制性片段长度多态性（RFLP）方法确定eNOS 4VNTR（4a/b）、T786C和G894T基因变异的基因型分布。在这些组之间，就eNOS T786C和eNOS G894T基因变异的基因型分布而言，确定存在显著差异（P＜0.05）。在患者中检测到G894T基因变异的TT基因型和T786C基因变异的CC基因型比例更高。T786C基因变异的CC基因型在男性患者中的检测率显著高于男性对照（P＜0.05）。此外，在患者组中观察到的4VNTR（4a/b）-G894T基因变异的aa-TT、ab-TT、bb-TT单倍型，4VNTR（4a/b）-T786C基因变异的aa-CC、ab-CC、bb-CC单倍型，以及G894T-T786C基因变异的TT-TT、TT-CC、TT-CT、GG-CC、GT-CC单倍型均多于对照组。在这些组之间，就eNOS（G894T-T786C）单倍型而言，检测到存在显著差异（P＜0.05）。在我们的研究中，确定eNOS T786C和eNOS G894T基因变异是土耳其色雷斯人群中重要的遗传危险因素。
