胆固醇酯转运蛋白基因D442G与阿尔茨海默病和血脂间的关系

Association between cholesteryl ester transfer protein D442G polymorphism,alzheimer's disease and serum lipoprotein level

目的探讨胆固醇酯转运蛋白基因D442G多态性与阿尔茨海默病(AD)易感性与血清脂蛋白水平间的关系。方法用限制性片段长度多态性检测125例AD和115例对照D442G和载脂蛋白E(ApoE)的基因多态性,并测定血清脂蛋白水平。结果对照组D442G的DG基因型频率(9%)高于AD组(2%);ApoE分层后,上述关系仅存在于ApoEε4携带者;DG基因型的高密度脂蛋白(HDL)水平[(1.95±0.71mmol/L)]高于DD基因型[(1.71±0.45mmol/L)],而AD组总胆固醇[(4.86±0.96)mmol/L]和低密度脂蛋白水平[(2.26±0.71)mmol/L]低于对照组[(5.30±1.16)mmol/L、(2.93±0.97)mmol/L]。结论 D442G基因多态性通过调节HDL水平影响AD易感性。

Objective To investigate the association between the cholesteryl ester transfer protein D442G polymorphism,Alzheimer＇s disease （ AD） and serum lipoprotein level. Methods The genotypes of D442G and apolipoprotein E （ ApoE） in 125 AD and 115 age and gender-matched healthy elders were determined by polymerase chain reaction-restriction fragment length polymorphism analysis. The serum lipoprotein was measured. Results The frequency of D442G heterozygote was higher in control subjects than that in AD patients. When the sample was stratified by ApoE allele status,the association above was only in the present of ApoE ε4. The serum high density lipoprotein level of DG genotype was higher than that of DD genotype,and the total cholesterol and low density lipoprotein level of AD was lower than that of the control. Conclusion D442G polymorphism may independently influence the risk of AD by adjusting HDL level.