Huang Xiurong, Zhao Yuwen, Pan Hongxu, Wang Yige, Liu Zhenhua, Xu Qian, Sun Qiying, Tan Jieqiong, Yan Xinxiang, Li Jinchen, Tang Beisha, Guo Jifeng
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Gene. 2022 Jun 30;829:146515. doi: 10.1016/j.gene.2022.146515. Epub 2022 Apr 18.
Parkinson's disease (PD) is a neurodegenerative disease caused by aging, environmental and genetic factors, and many susceptibility genes have been found to increase the risk for PD. Lin28a, an RNA binding protein, is expressed prominently in neural progenitor cells. The expression of Lin28a is decreased gradually with neural differentiation and is implicated in oncogenesis, glucose metabolism, neurogenesis, and neurogliogenesis. However, few genetic studies have explored the association between rare variants of the LIN28A gene and PD yet. Our study recruited 3,879 PD patients and 2,931 controls, and they were divided into two cohorts, including the EOPD & FPD cohort and the LOPD cohort, separately sequenced by whole-exome sequencing and whole-genome sequencing. We found nine rare nonsynonymous variants in the coding region of the LIN28A gene, but the rare variants of this gene were not enriched in PD patients in both cohorts. Thence, our study did not support the association between the LIN28A gene and the PD risk in the Chinese mainland population.
帕金森病（PD）是一种由衰老、环境和遗传因素引起的神经退行性疾病，并且已经发现许多易感基因会增加患帕金森病的风险。Lin28a是一种RNA结合蛋白，在神经祖细胞中显著表达。Lin28a的表达随着神经分化而逐渐降低，并且与肿瘤发生、葡萄糖代谢、神经发生和神经胶质生成有关。然而，很少有遗传学研究探讨LIN28A基因的罕见变异与帕金森病之间的关联。我们的研究招募了3879名帕金森病患者和2931名对照，他们被分为两个队列，包括早发性帕金森病和晚发性帕金森病队列以及晚发性帕金森病队列，分别通过全外显子组测序和全基因组测序进行测序。我们在LIN28A基因的编码区发现了9个罕见的非同义变异，但在两个队列中该基因的罕见变异在帕金森病患者中均未富集。因此，我们的研究不支持LIN28A基因与中国大陆人群帕金森病风险之间的关联。
