白血病融合基因EVI1的多态性与白血病发生风险的相关性

目的:探讨白血病融合基因亲嗜性病毒整合位点1(ecotropic viral integration site-1,EVI1)的多态性与白血病发生风险的相关性。方法:选取本院2017年2月～2019年2月收治的骨刺患儿90例作为研究组,同期选择健康人群83例作为对照组。清晨空腹抽取两组入选者的外周静脉血2 mL,采用PCR方法检测两组入选者EVI1的多态性情况,调查一般资料并进行相关性分析。结果:EVI1 rs17561基因共有CC、CA、AA三种基因型,两组入选者的EVI1 rs17561基因分布均符合Hardy-Weinberg平衡定律,研究对象具有群体代表性。两组入选者EVI1 rs17561基因型分布差异具有统计学意义(P0.05),研究组的EVI1 rs17561基因CC基因型显著高于对照组(90.0%vs. 75.9%, P0.05),研究组的等位基因C频率(显著高于对照组(96.7%vs. 80.7%, P0.05)。在90例骨刺患儿中,6例患儿确诊为白血病,检出率为6.7%,均为CC基因型。研究组患儿EVI1 rs17561基因的CC基因型与血小板计数、危险度分层、诊断分型显著相关(P0.05)。多元Logistic回归分析显示血小板计数、危险度分层、诊断分型为影响EVI1rs17561CC基因型的主要因素(P0.05)。结论:白血病患儿融合基因EVI1多态性比较常见,多表现为rs17561CC等位基因,此等位基因可能与白血病患者的血小板计数、危险度分层、诊断分型显著相关,其中血小板计数、危险度分层、诊断分型为影响EVI1rs17561CC基因型的主要因素。

Correlation between Leukemia Fusion Gene EVI1 Polymorphism and Risk of Leukemia

ABSTRACT Objective: To investigate the association between leukemia fusion gene eukaryotic fusion site 1 (EVI1) polymorphism and risk of leukemia. Methods: Ninety children children with spurs admitted to our hospital from February 2017 to February 2019 were selected as study groups, and eighty- three healthy people were selected as control group. The 2 mL of peripheral venous blood of the two group in the morning were collected, the polymorphism of EVI1 in the two groups were detected by PCR. The general data were investigated and were given correlation analysis. Results: The EVI1 rs17561 gene has three genotypes of CC, CA and AA, and the EVI1 rs17561 gene distribution of the two groups were consistent with the Hardy-Weinberg equilibrium law that so the subjects were representative. The difference of EVI1 rs17561 genotype distribution compared between the two groups were statistically significant (P<0.05), and the EVI1 rs17561 gene CC genotype in the study group was significantly higher than that in the control group (90.0% vs.75.9 %, P<0.05), and the frequency of allele C in the study group was significantly higher than that in the control group (96.7% vs. 80.7 %, P<0.05). Among the ninety children with bone spurs, 6 patients were diagnosed with leukemia, and the detection rate was 6.7 %, all of which were CC genotypes. In the leukemia group. The CC genotype of EVI1 rs17561 gene in the study group was significantly correlated with platelet count, risk stratification, and diagnostic typing (P<0.05). Multivariate logistic regression analysis showed that platelet count, risk stratification and diagnostic typing were the main factors affected the EVI1 rs17561CC genotype (P<0.05). Conclusion: The fusion gene EVI1 polymorphism in children with leukemia is more common, and it is mostly represented by the rs17561CC allele. This allele may be significantly related to platelet count, risk stratification, and diagnosis typing in patients with leukemia. Stratification and diagnosis are the main factors affecting the genotype of EVI1 rs17561CC.