阿尔茨海默病低密度脂蛋白受体相关蛋白基因两种多态性研究

The study on the relationship between two polymorphisms in the LRP gene and Alzheimer' s disease.

目的探讨阿尔茨海默病(AD)低密度脂蛋白受体相关蛋白(LRP)基因5’端上游调控区插入序列及外显子3C/T两种多态性。方法应用聚合酶链反应和限制性片段长度多态性方法,检测了56例晚发AD患者和75例正常老年人的LRP基因两种多态性。结果AD组LRP5’端上游调控区插入序列等位基因频率分别为A10.795和A20.205,A1等位基因频率显著高于对照组(X2=8.43,P<0.01);基因外显子3等位基因频率分别为C0.786和T0.214,C等位基因频率显著高于对照组(X2=4.48,P<0.05)。AD与LRP基因5’端上游调控区插入序列多态中的等位基因A1正关联(OR=2.28,P<0.01),与LRP基因外显子多态中的等位基因C正关联(OR=1.83,P<0.05),与等位基因T负关联(OR=0.55,P<0.05)。结论LRPA1等位基因可能是AD发病的危险因素,LRP基因外显子3C等位基因可能促进AD的发病,T等位基因可能具有保护作用。

objective： To explore the relationship between the polymorphisms in exon3 gene, tetranucleotide length polymorphism 5＇ of low-density lipoprotein receptor, related protein（LRP） gene and Alzheimer＇s disease（AD）. Methods： The polymorphisms in exon3 gene and tetranueleotide length polymorphism 5＇ of LRP gene were detected by using polymerase chain reaction restriction fragment length polymorphism （PCR-RFLP） technique in 56 patients with AD and 75 normal controls. Results： The frequency of allele A1 and A2 ofLRP exon3 gene were 0. 795 and 0. 295 respectively in AD patients. The frequency of allele Al increased significantly in patients with AD （X^2 =8. 43, P〈0. 01）. The frequencs; of allele C and T of LRP tetranueleotide length polymorphism 5＇ were 0. 786 and 0. 214 respectively in AD patients. The frequency of allele C increased significantly in patients with AD （X^2 = 4.48, P〈0.05）. AD was positively associated with allele A1 （OR=2.28,P〈0. 05,） for the LRP tetranucleotide length polymorphlsm; AD was positively as sociated with allele C （ OR = 1.83, P 〈0.05） and was negatively as sociated with allele T （OR =0.55, P〈0.05） for the LRP exon 3 polymorphism. Conclusions： Our results indicated that allele A1 of LRP tetranueleotide length polymorphism may increase the risk of the AD. Allele C of LRP exon 3 polymorphism may also increase the risk of the onset of AD, and allele T may protect people from AD.