Chen Juan, Zhao Yuwen, Zhou Xun, Xue Jin, Xiao Qiao, Pan Hongxu, Zhou Xiaoxia, Xiang Yaqin, Li Jian, Zhu Liping, Zhou Zhou, Yang Yang, Xu Qian, Sun Qiying, Yan Xinxiang, Tan Jieqiong, Li Jinchen, Guo Jifeng, Duan Ranhui, Tang Beisha, Yu Qiao, Liu Zhenhua
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Bioinformatics Center, National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Front Aging Neurosci. 2023 Jul 31;15:1234027. doi: 10.3389/fnagi.2023.1234027. eCollection 2023.
There is controversial evidence that premutation or "gray zone" (GZ) allele (small CGG expansion, 45-54 repeats) was associated with Parkinson's disease (PD). We aimed to explore further the association between CGG repeat expansions and PD in a large sample of Chinese origin.
We included a cohort of 2,362 PD patients and 1,072 controls from the Parkinson's Disease and Movement Disorders Multicenter Database and Collaborative Network in China (PD-MDCNC) in this study and conducted repeat-primed polymerase chain reaction (RP-PCR) for the size of CGG repeat expansions.
Two PD patients were detected with premutation (61 and 56 repeats), and the other eleven PD patients were detected with the GZ allele of CGG repeat expansions. Those thirteen PD patients responded well to levodopa and were diagnosed with clinically established PD. Specifically, one female PD patient with GZ allele was also found with premature ovarian failure. However, compared to healthy controls, we found no significant enrichment of GZ allele carriers in PD patients or other subgroups of PD cases, including the subgroups of female, male, early-onset, and late-onset PD patients. Furthermore, we did not find any correlation between the gene CGG repeat sizes and age at onset of PD.
It suggested that premutation was related to PD, but the GZ allele of CGG repeat expansions was not significantly enriched in PD cases of Chinese origin. Further larger multiple ethnic studies are needed to determine further the role of the GZ allele in PD.
有争议性证据表明，前突变或“灰色地带”（GZ）等位基因（小的CGG扩增，45 - 54次重复）与帕金森病（PD）相关。我们旨在在中国的一个大样本中进一步探讨CGG重复扩增与PD之间的关联。
在本研究中，我们纳入了来自中国帕金森病与运动障碍多中心数据库及协作网络（PD - MDCNC）的2362例PD患者和1072例对照，并进行重复引物聚合酶链反应（RP - PCR）以检测CGG重复扩增的大小。
检测到2例PD患者存在前突变（分别为61次和56次重复），另外11例PD患者检测到CGG重复扩增的GZ等位基因。这13例PD患者对左旋多巴反应良好，且被诊断为临床确诊的PD。具体而言，1例携带GZ等位基因的女性PD患者还被发现患有卵巢早衰。然而，与健康对照相比，我们发现PD患者或PD病例的其他亚组（包括女性、男性、早发型和晚发型PD患者亚组）中GZ等位基因携带者并无显著富集。此外，我们未发现基因CGG重复大小与PD发病年龄之间存在任何相关性。
这表明前突变与PD相关，但CGG重复扩增的GZ等位基因在中国起源的PD病例中并未显著富集。需要进一步开展更大规模的多民族研究以确定GZ等位基因在PD中的作用。
