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在NFKB1信号分子的遗传变异:对沙特阿拉伯的急性淋巴细胞白血病的影响

Fadwa M Alkhulaifi¹, Jamilah Alshammari², Hussah M Alobaid²

¹Department of Zoology, College of Science, King Saud University, Riyadh, Saudi Arabia. fadwaalkhulaifi@gmail.com.

Journal of applied genetics

|November 8, 2025

概括

激活B细胞 (NF-κB) 核因子卡帕光链增强器通路的遗传变异影响急性淋巴细胞白血病 (ALL) 风险. 特定的NFKB1基因变异,rs93059和rs1801,与沙特人口中改变的ALL敏感性有关.

科学领域:

遗传学是一个遗传学.
在瘤学瘤学.
免疫学免疫学免疫学

背景情况:

激活B细胞 (NF-κB) 信号的核因子卡帕-光链增强剂对免疫反应和癌症发展至关重要.
在NF-κB途径中的遗传变异可能会影响对急性淋巴细胞白血病 (ALL) 的易感性.

研究的目的:

研究NFKB1和NFKBIA基因中的特定多态化与沙特人口中ALL风险之间的关联.
评估NF-κB通路基因变异在ALL病变发生中的潜在作用.

主要方法:

在150名ALL患者和115名对照人群中,使用TaqMan®测定对NFKB1 (rs93059,rs1287,rs1801) 和NFKBIA (rs1050851,rs1957106,rs3138054) 多态的基因定型.
在各种遗传模型下对基因型-特征关联进行统计分析,计算几率比率 (OR) 和95%置信区间 (CI).

主要成果:

NFKB1 rs93059 A等位基因显示出对ALL风险的保护性关联 (OR=0.68).
NFKB1 rs1287 AA基因型与ALL风险增加有关 (OR=2.75),而NFKB1 rs1801 C等位基因在患者中被丰富 (OR=1.54).
在对多次测试进行校正后,没有发现NFKBIA变异的显著关联.

结论:

在沙特人口中,NFKB1基因多态 rs93059和rs1801可能在调节ALL易感性方面发挥作用.
这些发现突显了NF-κB通路遗传变异对白血病风险的潜在贡献,需要进一步的功能研究.

关键词:

急性淋巴细胞白血病 (Acute Lymphoblastic Leukemia) 是一种严重的疾病.基因表达基因表达在 NF-κBB 中.单个核酸的多态性.

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