在儿科急性淋巴细胞白血病中,环林D2基因变异和表达水平
Reham Abdel Haleem Abo Elwafa1, Magdy El Bordiny1, Mostafa Salama2
1Department of Clinical and Chemical Pathology, Faculty of Medicine, Alexandria University, Alexandria, Egypt.
Pediatric blood & cancer
|September 21, 2023
概括
CCND2 rs3217927单核酸多态 (SNP) 的G基因基因与埃及儿童患急性淋巴细胞白血病 (ALL) 的风险较高有关. 这种CCND2 SNP还可以作为所有风险分层和治疗结果的负预后标记.
科学领域:
- 遗传学 是一个遗传学.
- 在瘤学瘤学.
- 分子生物学分子生物学
背景情况:
- 环素D2 (CCND2) 在细胞循环调节中起着至关重要的作用.
- CCND2中的多态性与癌症倾向有关.
研究的目的:
- 研究CCND2 rs3217927单核酸多态 (SNP) 及其表达水平与埃及儿童急性淋巴细胞白血病 (ALL) 易感性之间的关联.
- 确定这个CCND2 SNP在儿科ALL中的潜在预后价值.
主要方法:
- 在80名儿科ALL患者和80名对照中使用5'核酶等位基因歧视试验对CCND2 rs3217927 SNP进行基因定型.
- 通过实时定量聚合酶链反应量化CCND2相对表达水平的量化.
主要成果:
- 在ALL患者中,CCND2 rs3217927的GG基因型和G等位基因显著更频繁 (p < .001).
- 携带单个G等位基因的ALL风险与携带A等位基因的人相比增加了大约31倍.
- 在ALL患者中,CCND2过度表达 (p < .001),与GG基因型和G等位基因相关.
- G基因组独立地预测了负面的预后结果,包括中枢神经系统的参与 (OR = 4.676),更高的风险分层 (OR = 38) 和化学抵抗 (OR = 9.864).
结论:
- CCND2 rs3217927 SNP的G等位基因与埃及儿童ALL风险增加有关.
- 这种CCND2 SNP作为独立的负预后标志物,用于儿童ALL的风险分层和治疗结果.
- 对CCND2 rs3217927的基因定型可能有助于识别所有具有攻击性疾病表型的患者,以便针对性治疗.
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