12个候选单核苷酸多态性位点与中国儿童急性淋巴细胞白血病易感性和预后的关系

doi:10.3969/j.issn.2095-9400.2021.07.002

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Abstract Objective: To investigate the relationship of 12 candidate single nucleotide polymorphisms(SNP) loci with the susceptibility and prognosis of Chinese children with acute lymphoblastic leukemia (ALL).Methods: Review the literature and select 12 candidate SNP loci, and then detect the genotype of each SNP by multiplex PCR targeted capture next-generation sequencing technology. A case-control study on 556 children with ALL and 191 healthy volunteers was conducted using chi-square test and logistic regression analysis to verify the relationship between SNP loci and the susceptibility of Chinese children with ALL. Kaplan-Meier survival analysis and Cox regression were used to analyze the relationship between SNP loci and the prognosis of ALL in 365 ALL cases. Results: Logistic regression analysis showed that the genotype of the SNP locus was significantly correlated with the increased risk of ALL: the rs10821936 risk allele C (OR=1.687, 95%CI=1.318-2.135, P<0.001) and rs10994982 risk allele A (OR=1.594, 95%CI=1.259-2.018, P<0.001) of the ARID5B gene;rs11978267 risk allele G (OR=2.133, 95%CI=1.495-3.043, P<0.001) and rs4132601 risk allele G (OR=2.108,95%CI=1.466-3.031, P<0.001) of the IKZF1 gene and the rs7554607 risk allele C (OR=1.481, 95%CI=1.161-1.890, P=0.002) of the ZNF230 gene. Multivariate Cox regression analysis showed that the following were an poor prognostic factor of event-free survival rate: TC genotype at rs10873876 locus of SIAT7C gene (HR=2.111,95%CI=1.260-3.539, P=0.005) and GG genotype at rs11155133 locus of LOC102723724 gene (HR=4.787,95%CI=1.652-13.870, P=0.004). At the same time, they were also poor prognostic factors of recurrence rate (the former HR=2.082, 95%CI=1.242-3.492, P=0.005, the latter HR=4.067, 95%CI=1.380-11.988, P=0.011).Conclusion: The rs10821936 and rs10994982 of ARID5B gene, rs7554607 of ZNF230 gene, rs11978267 and rs4132601 of IKZF1 gene are the potential susceptibility loci of ALL in Chinese children. Polymorphism loci of rs10873876 of SIAT7C and rs11155133 of LOC102723724 can be prognostic factors for childhood ALL.

Key words： acute lymphoblastic leukemia susceptibility prognosis single nucleotide polymorphism

Received: 11 November 2020

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https://xb.wmu.edu.cn/EN/10.3969/j.issn.2095-9400.2021.07.002 OR https://xb.wmu.edu.cn/EN/Y2021/V51/I7/524

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