ApoE基因对亨廷顿病发病年龄的影响

The impact of apolipoprotein E genotype on age at onset in Huntington disease

目的探讨ApoE基因对亨廷顿病发病年龄的影响。方法采用PCR-RFLP和非变性聚丙烯酰胺凝胶电泳方法检测29例HD患者的ApoE基因型,分析ApoE基因型与HD发病年龄的关系。结果 HD患者和正常人的ApoE基因型分布无明显差异(χ2=0.730,P>0.05),ε3/4基因型患者的发病年龄[(35.50±5.73)岁]较ε3/3基因型患者[(47.95±10.67)岁]提前(t=0.126,P<0.05),两组的致病CAG重复次数无明显差异[(47.62±4.37)次,(45.26±3.21)次;t=0.227,P>0.05]。结论 ApoE基因型影响HD的发病年龄,ε4等位基因使HD的发病年龄提前。

Objective To detect the impact of apolipoprotein E （ApoE） genotype on age at onset in Huntington disease （HD）. Methods PCR amplification and restriction fragment length polymorphism were used to detect ApoE genotypes. Results Genotypes of ApoE were same in HD patients and control group （χ^2=0.730,P〈0.05）. The patients carrying genotype epsilon 3/4（35.50±5.73） had an earlier onset than those carrying genotype epsilon 3/3（47.95±10.67,t=0.126,P〈0.05）. The difference was not found in CAG repeat between two groups（t=0.227,P〈0.05）. Conclusion Allele epsilon 4 gene is an important risk for the development of HD,and may cause its early onset.