The Notch signaling pathway is a mechanism that plays a role in the determination of cell fate during cell development. Signals between neighbor cells are amplified through the Notch receptors. Notch activity is related to general growth stages such as organogenesis and morphogenesis and has effects on cell differentiation, cell proliferation, and apoptosis. Lung cancer associated with degradation of proteins which regulate cellular activities such as cell growth, differentiation, proliferation and apoptosis or the loss of function of proteins due to mutations in the genes which that express these proteins. We aimed to determine the frequency of the Notch3 rs3815188 (C381T) and rs1043994 (G684A) polymorphisms and to investigate whether this gene is associated with genetic predisposition of development of lung cancer. In this study, DNA samples were extracted from the venous blood sample of 200 subjects (100 lung cancer patients and 100 controls). Notch3 rs3815188 (C381T) and rs1043994 (G684A) polymorphisms were determined using the restriction fragment length polymorphism method. A statistically significant difference was found between the patient and control groups for Notch3 gene rs3815188 and rs1043994 polymorphisms when evaluated in terms of genotype (p = 0.002 and p < 0.001, respectively) and allele frequencies (p < 0.05). In conclusion, the rs3815188 variant and rs1043994 variant of the Notch3 gene is associated with lung cancer risk in patients of Turkish origin.

中文翻译：

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Notch3基因的常见变体rs3815188和rs1043994赋予肺癌易感性：一项基于医院的病例对照研究。

Notch信号通路是一种在细胞发育过程中决定细胞命运的机制。相邻细胞之间的信号通过Notch受体扩增。Notch活性与诸如器官发生和形态发生等一般生长阶段有关，并且对细胞分化，细胞增殖和凋亡具有影响。肺癌与调节细胞活动（例如细胞生长，分化，增殖和凋亡）的蛋白质降解有关，或由于表达这些蛋白质的基因突变而导致蛋白质功能丧失。我们旨在确定Notch3 rs3815188（C381T）和rs1043994（G684A）多态性的频率，并调查该基因是否与肺癌发生的遗传易感性相关。在这个研究中，从200名受试者（100名肺癌患者和100名对照）的静脉血样品中提取DNA样品。使用限制性片段长度多态性方法确定Notch3 rs3815188（C381T）和rs1043994（G684A）多态性。当根据基因型（分别为p = 0.002和p​​ <0.001）和等位基因频率（p <0.05）进行评估时，Notch3基因rs3815188和rs1043994多态性在患者和对照组之间发现了统计学上的显着差异。总之，Notch3基因的rs3815188变体和rs1043994变体与土耳其籍患者的肺癌风险相关。使用限制性片段长度多态性方法确定Notch3 rs3815188（C381T）和rs1043994（G684A）多态性。当根据基因型（分别为p = 0.002和p​​ <0.001）和等位基因频率（p <0.05）进行评估时，Notch3基因rs3815188和rs1043994多态性在患者和对照组之间发现了统计学上的显着差异。总之，Notch3基因的rs3815188变体和rs1043994变体与土耳其籍患者的肺癌风险相关。使用限制性片段长度多态性方法确定Notch3 rs3815188（C381T）和rs1043994（G684A）多态性。当根据基因型（分别为p = 0.002和p​​ <0.001）和等位基因频率（p <0.05）进行评估时，Notch3基因rs3815188和rs1043994多态性在患者和对照组之间发现了统计学上的显着差异。总之，Notch3基因的rs3815188变体和rs1043994变体与土耳其籍患者的肺癌风险相关。