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GEMIN4变种:风险分析,生物信息学和动态模拟揭示了对膀癌的易感性

Abdallah S Mohamed¹, Afrah F Salama¹, Magdy A Sabaa²

¹Biochemistry Division, Department of Chemistry, Faculty of Science, Tanta University, Tanta, Egypt.

Archives of medical research

|February 24, 2024

概括

GEMIN4基因变异影响膀癌风险,其中rs.2740348提供保护,rs.7813增加易感性. 这些发现对于开发膀癌的新诊断和治疗策略至关重要.

科学领域:

遗传学遗传学是一个
在瘤学瘤学.
生物信息学是一种生物信息学.

背景情况:

GEMIN4基因变异与膀癌 (BLCA) 之间的关联仍然没有确定性.
需要进一步的研究,以了解GEMIN4多态体在BLCA易感性中的作用.

研究的目的:

调查GEMIN4遗传变异与BLCA风险之间的关系.
用生物信息学和分子动力学模拟来分析这些变异对蛋白质结构和功能的影响.

主要方法:

使用PCR对249名参与者 (121名BLCA患者,128名对照人) 的基因定型.
哈普洛型分析,蛋白质结构预测 (AlphaFold2) 和分子动力学模拟 (德斯蒙德,UCSF ChimeraX,Cytoscape).

主要成果:

rs.2740348*G变种显示出对BLCA的保护作用 (OR=0.55,p=0.002).
rs.7813*T变异增加了BLCA风险 (OR=1.90,p=0.019). 这种变异可能会导致BLCA.
GEMIN4变种影响了蛋白质的稳定性和功能,Glu450是中性的,Cys1033是有害的.

结论:

在BLCA易感性方面,GEMIN4变种扮演着双重角色.
这项研究提供了关于GEMIN4在BLCA中的作用背后的分子机制的见解.
这些发现支持未来BLCA的诊断和治疗发展.

关键词:

GEMIN4* 的价格为2740348美元.在 GEMIN4* rs.781313 的价格.遗传变异和膀癌的发生

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