乙酰肝素酶Arg307Lys多态性与成年人急性白血病发病风险的关系

 目的　探讨乙酰肝素酶（HPSE）Arg307Lys 多态性与成年人急性白血病发病风险的关系。方法　按照1∶1配对病例对照研究方法，选择中国北方地区100例急性髓系白血病（AML）和25例急性淋巴细胞白血病（ALL）患者为病例组，100名中国北方地区健康人为对照组，采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法检测观察对象外周血HPSE Arg307Lys基因多态性。结果　成年ALL病例组和对照组Lys／Lys、Arg／Lys、Arg／Arg基因型分布频率分别为80 %、16 %、4 %和75 %、23 %、2 %，两组比较差异无统计学意义（χ2＝0.07，P＝0.79；χ2＝0.08，P＝0.78）。AML病例组Lys／Lys、Arg／Lys、Arg／Arg基因型频率分别为85 %、14 %、1 %，与对照组比较差异无统计学意义（χ2＝3.03，P＝0.08；χ2＝3.15，P＝0.08）。携带HPSE Arg307Lys突变基因（AA／AA+AG）的个体不增加AML及ALL的发病风险（AML：χ2＝3.13，P＝0.07，OR＝1.89，95 %CI 0.93～3.83；ALL：χ2＝0.27，P＝0.60，OR＝1.33，95 %CI 0.45～3.90）。结论　HPSE Arg307Lys与中国北方地区急性白血病的发生可能无关。

Relationship between polymorphisms of HPSE Arg307Lys and the risk of adult acute leukemia

Objective To detect the relationship between HPSE Arg307Lys polymorphism and the risk of adult acute leukemia （AL）. Methods 100 adult AML patients and 100 heahhies were chosen as cases and control group respectively according to 1：1 for paired cases and control. 25 adult ALL patients and 100 controls were chosen as case and control group respectively according to 1：4 for paired cases and control. The genetic polymorphisms of HPSE Arg307Lys were genotyped by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） analysis in peripheral blood. Results The genotype frequency of Lys/Lys, Arg/Lys, Arg/Arg were 80 %, 16 %, 4 % in ALL group and 85 %, 14 %, 1% in AML group and 75 %, 23 %, 2 % in control group, respectively. There was no significant difference between the genotype frequency in ALL group and control group （genotype frequency X 2=0.07, P =0.79; allele frequency X 2 =0.08, P =0.78）, as well as between that in AML group and that in control group （genotype frequency X2 =3.03, P =0.08; allele frequency X2 =3.15, P =0.08）. No significantly increased risk for adult AML and ALL was observed for those carrying variant genotype with OR analysis （AML X2 =3.13, P =0.07, OR =1.89, 95 % CI 0.93-3.83; ALL X 2 =0.27, P =0.60, OR=1.33, 95 % CI 0.45-3.90）. Conclusion There was no correlation of the heparanase gene single-nucleotide polymorphism Arg307Lys with acute leukemia in Chinese patients.