Martin-Rehrmann Matthew D, Cho Hyun Soon, Rebeck G William
Alzheimer Research Unit, 114 16th Street, Massachusetts General Hospital, Charlestown, MA 02129, USA.
Neurosci Lett. 2002 Aug 9;328(2):109-12. doi: 10.1016/s0304-3940(02)00511-6.
A recent genetic study demonstrated associations between an altered risk of Alzheimer's disease (AD) and two polymorphisms in the lipoprotein lipase (LPL) gene, Asn291Ser and Ser447Ter. LPL immunostains senile plaques, and is a ligand of the low-density lipoprotein receptor-related protein (LRP), a major apolipoprotein E (apoE) receptor. LPL increases the cellular uptake of apoE via LRP, and polymorphisms in LPL alter its ability to mediate apoE-LRP interactions, with potential implications for AD pathogenesis. Here, we tested the genetic association of LPL with AD in a case-control study. For the Asn291Ser polymorphism, we analyzed 277 individuals (141 AD, 136 control) and found no significant difference in allele frequencies between the AD and control groups. For the Ser447Ter polymorphism, we analyzed 187 individuals (108 AD, 79 control) and again found no significant difference in allele frequencies between the AD and control groups. Thus, our study does not support associations between AD and two common polymorphisms in LPL.
最近的一项基因研究表明,阿尔茨海默病(AD)风险改变与脂蛋白脂肪酶(LPL)基因中的两个多态性位点Asn291Ser和Ser447Ter之间存在关联。LPL对老年斑进行免疫染色,并且是低密度脂蛋白受体相关蛋白(LRP)的配体,LRP是主要的载脂蛋白E(apoE)受体。LPL通过LRP增加细胞对apoE的摄取,LPL中的多态性改变了其介导apoE-LRP相互作用的能力,这对AD发病机制具有潜在影响。在此,我们在一项病例对照研究中测试了LPL与AD的基因关联性。对于Asn291Ser多态性,我们分析了277名个体(141例AD患者,136例对照),发现AD组和对照组之间的等位基因频率没有显著差异。对于Ser447Ter多态性,我们分析了187名个体(108例AD患者,79例对照),同样发现AD组和对照组之间的等位基因频率没有显著差异。因此,我们的研究不支持AD与LPL中的两个常见多态性之间存在关联。