Chen Chao-Chun, Tsai Chung-Lin, Pei Jen-Sheng, Tzeng Huey-En, Hsu Pei-Chen, Cheng DA-Chuan, Lin Jiunn-Cherng, Tsai Chia-Wen, Bau DA-Tian, Chang Wen-Shin
Department of Pediatrics, Taoyuan General Hospital, Ministry of Health and Welfare, Taoyuan, Taiwan, R.O.C.
Division of Cardiac and Vascular Surgery, Cardiovascular Center, Taichung Veterans General Hospital, Taichung, Taiwan, R.O.C.
Cancer Genomics Proteomics. 2025 Jan-Feb;22(1):46-54. doi: 10.21873/cgp.20486.
BACKGROUND/AIM: The disruption of cell-cycle control can lead to an imbalance in cell proliferation, often accompanied by genomic instability, which in turn can facilitate carcinogenesis. This study aimed to examine the impact of CDKN1A rs1801270 and rs1059234 polymorphisms on the risk of childhood acute lymphocytic leukemia (ALL) in Taiwan.
The genotypes of CDKN1A rs1801270 and rs1059234 in 266 childhood ALL cases and 266 controls were determined using PCR-RFLP techniques.
The genotypic and allelic frequencies for CDKN1A rs1801270 and rs1059234 did not significantly differ between childhood ALL cases and controls (all p>0.05). However, stratified analysis revealed that the CDKN1A rs1801270 AA variant was associated with a reduced risk of childhood ALL in males (OR=0.40, 95%CI=0.20-0.82, p=0.0178). Additionally, the AC and AA genotypes of rs1801270 were linked to a lower risk classification for childhood ALL and longer survival times (OR=0.57 and 0.31, 95%CI=0.33-0.97 and 0.18-0.56, p=0.0538 and 0.0001, respectively). No significant associations were found for rs1059234 in the stratified analyses (p>0.05 for all).
Although CDKN rs1801270 and rs1059234 genotypes were not associated with an overall risk of childhood ALL, CDKN1A rs1801270 polymorphism may serve as a protective predictor in males and as a potential marker for better prognosis of childhood ALL. Validation in larger and more diverse populations is necessary to confirm the feasibility of this predictor.
背景/目的：细胞周期调控的破坏可导致细胞增殖失衡，常伴有基因组不稳定，进而促进癌症发生。本研究旨在探讨CDKN1A基因rs1801270和rs1059234多态性对台湾儿童急性淋巴细胞白血病（ALL）风险的影响。
采用PCR-RFLP技术检测266例儿童ALL病例和266例对照中CDKN1A基因rs1801270和rs1059234的基因型。
儿童ALL病例与对照中，CDKN1A基因rs1801270和rs1059234的基因型和等位基因频率无显著差异（所有p>0.05）。然而，分层分析显示，CDKN1A基因rs1801270的AA变异与男性儿童ALL风险降低相关（OR=0.40，95%CI=0.20-0.82，p=0.0178）。此外，rs1801270的AC和AA基因型与儿童ALL较低的风险分类及较长的生存时间相关（OR分别为0.57和0.31，95%CI=0.33-0.97和0.18-0.56，p分别为0.0538和0.0001）。分层分析中未发现rs1059234有显著关联（所有p>0.05）。
尽管CDKN基因rs1801270和rs1059234基因型与儿童ALL的总体风险无关，但CDKN1A基因rs1801270多态性可能是男性的一种保护预测指标，也是儿童ALL预后较好的潜在标志物。需要在更大且更多样化的人群中进行验证，以确认该预测指标的可行性。
