Wang Z-M, Luo J-Q, Xu L-Y, Zhou H-H, Zhang W
Department of Clinical Pharmacology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Institute of Clinical Pharmacology, Central South University; Hunan Key Laboratory of Pharmacogenetics, Changsha, Hunan, China.
Pharmacogenomics J. 2018 May 22;18(3):351-358. doi: 10.1038/tpj.2017.28. Epub 2017 Jul 11.
Wnt signaling regulates a broad variety of processes in both embryonic development and various diseases. Recent studies indicated that some genetic variants in Wnt signaling pathway may serve as predictors of diseases. Low-density lipoprotein receptor protein 6 (LRP6) is a Wnt co-receptor with essential functions in the Wnt/β-catenin pathway, and mutations in LRP6 gene are linked to many complex human diseases, including metabolic syndrome, cancer, Alzheimer's disease and osteoporosis. Therefore, we focus on the role of LRP6 genetic polymorphisms and Wnt signaling in complex diseases, and the mechanisms from mouse models and cell lines. It is also highly anticipated that LRP6 variants will be applied clinically in the future. The brief review provided here could be a useful resource for future research and may contribute to a more accurate diagnosis in complex diseases.
Wnt信号通路在胚胎发育和多种疾病中调控着广泛的过程。最近的研究表明，Wnt信号通路中的一些基因变异可能作为疾病的预测指标。低密度脂蛋白受体相关蛋白6（LRP6）是一种Wnt共受体，在Wnt/β-连环蛋白通路中具有重要功能，LRP6基因的突变与许多复杂的人类疾病相关，包括代谢综合征、癌症、阿尔茨海默病和骨质疏松症。因此，我们关注LRP6基因多态性和Wnt信号通路在复杂疾病中的作用，以及来自小鼠模型和细胞系的机制。人们也高度期待LRP6变异体在未来能应用于临床。本文提供的简要综述可能为未来的研究提供有用的资源，并可能有助于对复杂疾病进行更准确的诊断。
