载脂蛋白(a)基因多态性与原发性下肢深静脉血栓形成的相关性研究

Association study between apolipoprotein(a) gene polymorphism and primary lower limbs deep venous thrombosis

目的:探讨载脂蛋白(a)[Apo(a)]基因五核苷酸重复序列(PNR)多态性与原发性下肢深静脉血栓(DVT)形成的相关性。方法:以107例原发性下肢DVT患者为研究对象(DVT组),另选择120例健康志愿者为对照组,检测两组血清脂蛋白(a)[Lp(a)]水平和Apo(a)基因PNR多态性,并进行统计学比较分析。结果:DVT组血清Lp(a)水平显著高于对照组[(316.7±141.3)mg·L^(-1)vs.(265.8±120.3)mg·L^(-1),t=2.931,P=0.004]。两组等位基因及基因型分布频率差异均有统计学意义(分别为χ2=7.470,P=0.024;χ2=13.652,P=0.003)。DVT组重复次数为5的等位基因和5/8基因型频率显著高于对照组(分别为χ2=6.971,P=0.008;χ2=7.366,P=0.007),8/8基因型频率显著低于对照组(χ2=7.435,P=0.006)。DVT组血清Lp(a)水平与(TTTTA)n重复次数呈负相关(r=-0.229,P=0.008);对照组血清Lp(a)水平与(TTTTA)n重复次数无明显相关性(r=-0.101,P=0.258)。结论:Apo(a)基因PNR多态性可能与原发性下肢DVT易感性相关。

Objective： To investigate the genetic association between pentanuclotide repeats（PNR）polymorphism of apolipoprotein（a） [Apo（a） ] gene and primary lower limbs deep venous thrombosis（DVT）.Methods： One hundred and seven patients with primary lower limbs DVT were recruited to participate in this study as the DVT group. Meanwhile,120 healthy volunteers without DVT were recruited to participate in the study as the control group. Serum lipoprotein（a） [Lp（a） ] level of the two groups were tested,Apo（a） gene PNR polymorphism was determined by polymerase chain reaction-polyacrylamid gels electropherosis and statistical analysis was made. Results： Serum Lp（a） level of the DVT group was significantly higher than that of the control group [（316. 7 ± 141. 3） mg · L^-1 vs.（265. 8 ± 120. 3） mg · L^-1,t = 2. 931,P = 0. 004]. There were significant difference in the allele and genotype frequencies of Apo（a） gene PNR polymorphism between the DVT group and the control group（χ^2= 7. 470,P = 0. 024; χ^2= 13. 652,P = 0. 003）. Compared with the control group,frequencies of allele 5 repeats and genotype 5/8 were significantly increased in the DVT group（χ^2= 6. 971,P =0. 008; χ^2= 7. 366,P = 0. 007）,the frequency of genotype 8/8 in the DVT group was significantly decreased（χ^2=7. 435,P = 0. 006）. For the DVT group,there was a negative correlation between serum Lp（a） level and the repeats of（TTTTA） n（r =-0. 229,P = 0. 008）. However,there was no significant correlation was found in the control group. Conclusion： Apo（a） gene PNR polymorphism may closely related to primary lower limbs DVT.