MPO和NAT2基因多态性与成人急性白血病易感性

朱方艳; 张娟; 尹立红; 浦跃朴

doi:10.11847/zgggws2006-22-05-46

MPO和NAT2基因多态性与成人急性白血病易感性

Relationship between polymorphisms of MPO and NAT2 and susceptibility of adult acute leukemia in Chinese aclult population

摘要

摘要:
目的研究髓过氧化物酶(MPO)和N-乙酰基转移酶2(NAT2)基因多态性与成人急性白血病易感性的关系。
方法用1∶1配对病例-对照研究方法, 收集成人急性白血病患者和对照各139例, 应用聚合酶链-内切酶片段(PCR-RFLP)方法分析病例组和对照组MPO和NAT2的基因多态性, 比较不同基因型与成人急性白血病易感性。
结果 MPO-463A等位基因分布频率病例组低于对照组, MPO(G-463A)各基因型在病例组与对照组中的分布差异有统计学意义(χ²=7.026, P < 0.05, OR=0.505, 95%CI=0.325~0.847)。NAT2乙酰化表型频率在病例组与对照组的分布差异无统计学意义(χ²=2.260, P > 0.05);但NAT2*5 481T等位基因和NAT2*6 590A等位基因分布频率病例组高于对照组(P < 0.05)。
结论 MPO与成人急性白血病易感性相关, 携带MPO(G-463A)突变基因型(GA/AA)个体可降低白血病的发病风险; NAT2乙酰化表型可能与白血病的易感性无关, 但NAT2*5(C481T)、NAT2*6(G590A)单核苷酸突变频率病例组明显高于对照组。

Abstract:
Objective To study the relationship between MPO and NAT2 polymophisms and the susceptibility of the adultacute leukemia in Chinese Han population.
Methods A1B1 paired case-control study of 139 patients of adult acute leukemia and 139 cancer-free hospital subjects as a control group(matched for age±5years and sex)was conducted to detect myeloperoxidase(MPO)and N-terminal acety ltransferase(NAT2)po lymorphisms by PCR-based restriction fragment length polymorphism(PCR-RFLP)techniques.
Results Asignificant difference of genotpe fr equency was observed between acute leukemia cases and controls(χ²=7.026, P < 0.05, OR=0.505, 95%CI=0.325~0.847)for MPO, and the mutant MPO genotype was associated with a decreased risk of acute leukemia.No difference of phenotype fr equency between cases and controls for NAT2 was found, but the frequencies of NAT2*5 481T and NAT2*6 590A alleles in cases were higher than those in controls(P < 0.05).
Conclusion the genetic polymorphism of MPO genotype might be cortributed to the susceptibility of adult acute leukemia in Chinese Han population.No association was observed between the NAT2 phenotype and the susceptibility of adult acute leukemia, but the relationship between the single nucleot ide poly mor phisms in the NAT2*5 (C481T)and NAT2*6(G590A)alleles and the susceptibility to leukemia should be fur ther studied.

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