Objective: To investigate the relationship between single nucleotide polymorphisms (SNPs) of IKAROS family Zinc finger 3 (IKZF3) gene and the risk of acute lymphoblastic leukemia (ALL) in children.
Methods: The peripheral blood samples from 286 children with ALL and 382 healthy children were collected and divided into ALL group and control group, respectively. The genotypes of IKZF3 gene at rs62066988 C > T and rs12946510 C > T were detected by quantitative PCR with TaqMan detection system, and their correlation with ALL was analyzed.
Results: The distribution frequencies of CC, CT and TT genotypes at rs62066988 in ALL group were 58.39%, 37.06% and 4.55%, respectively, while those in control group were 69.19%, 27.68% and 3.13%, respectively. The distribution frequencies of CC, CT and TT genotypes at rs12946510 in ALL group were 58.16%, 34.75% and 7.09%, respectively, while those in control group were 55.76%, 37.43% and 6.81%, respectively. Compared with the control group, the distribution frequency of CT/TT genotype at rs62066988 was significantly increased in the ALL group (OR=1.59, 95%CI: 1.16-2.19, P=0.004). However, there was no significant difference in the distribution of rs12946510 C > T polymorphism between ALL group and control group.
Conclusion: The CT/TT genotype of IKZF3 at the site of rs62066988 is associated with the increased risk of ALL in children.
题目: IKZF3基因单核苷酸多态性与儿童急性淋巴细胞白血病的关系.
目的: 探讨IKAROS家族锌指蛋白3（IKZF3）基因单核苷酸多态性与儿童急性淋巴细胞白血病（ALL）发病风险的关系.
方法: 收集286例ALL患儿以及382例健康儿童的外周血样本，分别作为ALL组和对照组。采用TaqMan探针实时定量PCR技术检测IKZF3基因rs62066988 C > T和rs12946510 C > T 两个单核苷酸多态性位点的基因型分布情况，并分析二者与ALL的相关性.
结果: rs62066988位点的CC、CT和TT基因型在ALL组的分布频率分别为58.39%、37.06%和4.55%，在对照组的分布频率分别为69.19%、27.68%和3.13%。rs12946510位点的基因型CC、CT和TT在ALL组的分布频率分别为58.16%、34.75%和7.09%，在对照组的分布频率分别为55.76%、37.43%和6.81%。与对照组相比，rs62066988位点的CT/TT基因型在ALL组中的分布频率显著增加（CT/TT vs CC：校正后OR=1.59，95%CI：1.16-2.19，P=0.004），而rs12946510 C > T的多态性分布在ALL组和对照组之间并无显著差异.
结论: IKZF3基因rs62066988位点的CT/TT基因型与儿童ALL发病风险的增加有关.