维吾尔族阿尔茨海默病患者低密度脂蛋白受体相关蛋白基因766C/T多态性及血脂水平的研究

目的 研究新疆维吾尔自治区维吾尔族(以下简称维族)阿尔茨海默病(AD)患者低密度脂蛋白受体相关蛋白(LRP)基因766C/T多态性及血脂水平.方法 在流行病学调查基础上,采用美国国立神经病学和语言障碍与脑卒中研究所-阿尔茨海默病和相关障碍协会制定的标准,诊断为很可能AD的患者111例和正常对照者117名,应用聚合酶链反应-限制性片段长度多态性分析方法,检测两组LRP基因766C/T多态性;并用氧化酶法测定总胆固醇(TC)、三酰甘油(TG)、高密度脂蛋白胆固醇(HDL-C)、低密度脂蛋白胆固醇(LDL-C)的水平.结果 (1)AD组LRP基因第766位点CC、CT、TT基因型频率(X2=1.563)和等位基因频率(X2=1.591)与对照组比较,差异均无统计学意义(P均>0.05).(2)AD组血清TC水平(4.4±0.7)mmol/L]高于对照组(4.2±0.6)mmol/L;t=2.234,P<0.05],TG水平(1.81±0.33)mmol/L]亦高于对照组(1.61±0.52)mmoL/L;t=2.360,P<0.05].(3)AD组(1.83±0.34)mmol/L]和对照组CC基因型者的血清TG水平(1.67±0.54)mmol/L]均高于CT+TT型者分别为(1.66±0.24)mmol/L和(1.41±0.39)mmol/L;t:2.275,2.161,P<0.05].结论 LRP基因766C/T基因型频率和等位基因频率在AD组和对照组间的分布相似;AD患者存在脂质代谢素乱,LRP基因766C/T多态性可能对血脂代谢有影响.

Analysis of low density lipoprotein receptor-related protein gene 766C/T polymorphism and the levels of serum lipids in patients with Alzheimer's disease in Xinjiang Uygurs

Objective To investigate lipoprotein-receptor related protein (LRP) gene 766C/T polymorphisms and the levels of serum lipids in Alzheimer disease (AD) in Xinjiang Uygurs. Methods The LRP gene 766C/T polymorphism was analyzed in 111 cases diagnosed according to the National Institute of Neurological and Communicative Diseases and Stroke/Alzheimer Disease and Related Disorders Association(NINCDS/ADRDA) criteria and 117 normal controls by using polymerase chain reaction-restriction fragment length polymorphism on the basis of an epidemiological survey. The serum levels of total cholesterol, triglyceride, low density lipoprotein cholesterol and high density lipoprotein cholesterol were measured. Results ( 1 ) There were no statistical differences in genotype frequencies and allele frequencies between the AD group and control group (P > 0.05 ). (2) There were significant differences in the level of total cholesterol and triglyceride between the AD group and control group ( P < 0.05 ). ( 3 ) The serum levels of triglycefide with CC genotype were significantly higher than those with CT/Tr genotype in the AD group and control group ( P < 0.05 ). Conclusions There may be no differences in distribution of LRP gene 766C/T genotype and allele frequency polymorphism between the AD group and control group, but AD patients may have the plasma lipopruteins metabolism disorder. LRP gene 766C/T polymorphisms maybe have effects on plasma lipoproteins metabolosm.