详情页 - 首都医科大学宣武医院知识库

当前位置：首页 > 详情页

High-depth whole-genome sequencing identifies structure variants, copy number variants and short tandem repeats associated with Parkinson's disease

28| 认领 | 导出 | 链接全文 |

文献详情

资源类型：

WOS体系：

Pubmed体系：

收录情况： ◇ SCIE

作者：

机构： [1]Department of Neurology & Neurobiology, Xuanwu Hospital of Capital Medical University, National Clinical Research Center for Geriatric Diseases, Beijing, 100053, China. [2]BGI-Shenzhen, Beishan Industrial Zone, Shenzhen, 518083, China. [3]National Human Genome Center in Beijing, Beijing Economic-Technological Development Zone, Beijing, 100176, China. [4]Department of Neurology, Xiangya Hospital, Central South University, State Key Laboratory of Medical Genetics, Changsha, China. [5]Department of Neurology, Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China. [6]Hebei Industrial Technology Research Institute of Genomics in Maternal & Child Health, Shijiazhuang, 050000, China. [7]Advanced Innovation Center for Human Brain Protection, Capital Medical University, Beijing, China. [8]Clinical Center for Parkinson’s Disease, Capital Medical University, Key Laboratory for Neurodegenerative Disease of the Ministry of Education, Beijing Key Laboratory for Parkinson’s Disease, Beijing, China. [9]Beijing Institute of Brain Disorders, Collaborative Innovation Center for Brain Disorders, Capital Medical University, Beijing, China.

出处：

DOI：

ISSN：

摘要：

While numerous single nucleotide variants and small indels have been identified in Parkinson's disease (PD), the contribution of structural variants (SVs), copy number variants (CNVs), and short tandem repeats (STRs) remains poorly understood. Here we investigated the association using the high-depth whole-genome sequencing data from 466 Chinese PD patients and 513 controls. Totally, we identified 29,561 SVs, 32,153 CNVs, and 174,905 STRs, and found that CNV deletions were significantly enriched in the end-proportion of autosomal chromosomes in PD. After genome-wide association analysis and replication in an external cohort of 352 cases and 547 controls, we validated that the 1.6 kb-deletion neighboring MUC19, 12.4kb-deletion near RXFP1 and GGGAAA repeats in SLC2A13 were significantly associated with PD. Moreover, the MUC19 deletion and the SLC2A13 5-copy repeat reduced the penetrance of the LRRK2 G2385R variant. Moreover, genes with these variants were dosage-sensitive. These data provided novel insights into the genetic architecture of PD.© 2024. The Author(s).

基金：

语种：

被引次数：

WOS：

PubmedID：

中科院(CAS)分区：

出版当年[2023]版：

大类 | 1 区医学

小类 | 1 区神经科学

最新[2023]版：

大类 | 1 区医学

小类 | 1 区神经科学

JCR分区：

出版当年[2022]版：

Q1 NEUROSCIENCES

最新[2023]版：

Q1 NEUROSCIENCES

影响因子： 6.7 最新[2023版] 7.3 最新五年平均 8.7 出版当年[2022版] 9.1 出版当年五年平均 9.304 出版前一年[2021版] 6.7 出版后一年[2023版]

第一作者：

第一作者机构： [1]Department of Neurology & Neurobiology, Xuanwu Hospital of Capital Medical University, National Clinical Research Center for Geriatric Diseases, Beijing, 100053, China.

共同第一作者：

通讯作者：

通讯机构： [1]Department of Neurology & Neurobiology, Xuanwu Hospital of Capital Medical University, National Clinical Research Center for Geriatric Diseases, Beijing, 100053, China. [2]BGI-Shenzhen, Beishan Industrial Zone, Shenzhen, 518083, China. [6]Hebei Industrial Technology Research Institute of Genomics in Maternal & Child Health, Shijiazhuang, 050000, China. [7]Advanced Innovation Center for Human Brain Protection, Capital Medical University, Beijing, China. [8]Clinical Center for Parkinson’s Disease, Capital Medical University, Key Laboratory for Neurodegenerative Disease of the Ministry of Education, Beijing Key Laboratory for Parkinson’s Disease, Beijing, China. [9]Beijing Institute of Brain Disorders, Collaborative Innovation Center for Brain Disorders, Capital Medical University, Beijing, China.

推荐引用方式(GB/T 7714)：

APA：

MLA：