Clusterin (CLU; also known as apolipoprotein J, ApoJ) is a protein of inconstant structure known to be involved in diverse processes inside and outside of brain cells. CLU can act as a protein chaperon or protein solubilizer, lipid transporter as well as redox sensor and be anti- or proapoptotic, depending on context. Primary structure of CLU is encoded by CLU gene which contains single nucleotide polymorphisms (SNP’s) associated with the risk of late-onset Alzheimer’s disease (LOAD). Studying a sample of Czech population and using the case-control association approach we identified C allele of the SNP rs11136000 as conferring a reduced risk of LOAD, more so in females than in males. Additionally, data from two smaller subsets of the population sample suggested a possible association of rs11136000 with diabetes mellitus. In a parallel study, we found no association between rs11136000 and mild cognitive impairment (MCI). Our findings on rs11136000 and LOAD contradict those of some previous studies done elsewhere. We discuss the multiple roles of CLU in a broad range of molecular mechanisms that may contribute to the variability of genetic studies of CLU in various ethnic groups. The above discordance notwithstanding, our conclusions support the association of rs1113600 with the risk of LOAD.

Clusterin (CLU; 也称为载脂蛋白 J，ApoJ) 是一种结构不稳定的蛋白质，已知参与脑细胞内外的各种过程。CLU 可以充当蛋白质伴侣或蛋白质增溶剂、脂质转运体以及氧化还原传感器，并且是抗凋亡或促凋亡的，具体取决于上下文。CLU的一级结构由CLU编码含有与迟发性阿尔茨海默病 (LOAD) 风险相关的单核苷酸多态性 (SNP) 的基因。研究捷克人口样本并使用病例对照关联方法，我们确定 SNP rs11136000 的 C 等位基因降低了 LOAD 的风险，女性比男性更是如此。此外，来自人口样本的两个较小子集的数据表明 rs11136000 可能与糖尿病有关。在一项平行研究中，我们发现 rs11136000 与轻度认知障碍 (MCI) 之间没有关联。我们在 rs11136000 和 LOAD 上的发现与之前在其他地方所做的一些研究相矛盾。我们讨论了 CLU 在可能导致CLU遗传研究变异性的广泛分子机制中的多重作用在各个民族。尽管存在上述不一致，但我们的结论支持 rs1113600 与 LOAD 风险的关联。