首页|Genetic analysis of transcription factors in dopaminergic neuronal development in Parkinson's disease

Genetic analysis of transcription factors in dopaminergic neuronal development in Parkinson's disease

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  • 国家科技期刊平台
  • NETL
  • NSTL
  • 万方数据
Background:Genetic variants of dopaminergic transcription factor-encoding genes are suggested to be Parkinson's disease(PD)risk factors;however,no comprehensive analyses of these genes in patients with PD have been undertaken.Therefore,we aimed to genetically analyze 16 dopaminergic transcription factor genes in Chinese patients with PD.Methods:Whole-exome sequencing(WES)was performed using a Chinese cohort comprising 1917 unrelated patients with familial or sporadic early-onset PD and 1652 controls.Additionally,whole-genome sequencing(WGS)was performed using another Chinese cohort comprising 1962 unrelated patients with sporadic late-onset PD and 1279 controls.Results:We detected 308 rare and 208 rare protein-altering variants in the WES and WGS cohorts,respectively.Gene-based association analyses of rare variants suggested that MSX1 is enriched in sporadic late-onset PD.However,the significance did not pass the Bonferroni correction.Meanwhile,72 and 1730 common variants were found in the WES and WGS cohorts,respectively.Unfortunately,single-variant logistic association analyses did not identify significant associations between common variants and PD.Conclusions:Variants of 16 typical dopaminergic transcription factors might not be major genetic risk factors for PD in Chinese patients.However,we highlight the complexity of PD and the need for extensive research elucidating its etiology.

Parkinson's diseaseTranscription factorsDopaminergic neuronsGeneticVariants

Yuwen Zhao、Lixia Qin、Hongxu Pan、Tingwei Song、Yige Wang、Xiaoxia Zhou、Yaqin Xiang、Jinchen Li、Zhenhua Liu、Qiying Sun、Jifeng Guo、Xinxiang Yan、Beisha Tang、Qian Xu

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Department of Neurology,Xiangya Hospital,Central South University,Changsha,Hunan 410008,China

Department of Neurology,The Second Xiangya Hospital,Central South University,Changsha,Hunan 410011,China

Bioinformatics Center National Clinical Research Center for Geriatric Disorders,Xiangya Hospital,Central South University,Changsha,Hunan 410008,China

Department of Geriatrics,Xiangya Hospital,Central South University,Changsha,Hunan 410008,China

Centre for Medical Genetics and Hunan Key Laboratory of Medical Genetics,School of Life Sciences,Central South University,Changsha,Hunan 410008,China

Key Laboratory of Hunan Province in Neurodegenerative Disorders,Central South University,Changsha,Hunan 410008,China

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National Natural Science Foundation of ChinaNational Natural Science Foundation of ChinaNational Natural Science Foundation of ChinaHunan Innovative Province Construction ProjectNatural Science Foundations of Hunan ProvinceNational Key Research and Development Program of ChinaNational Key Research and Development Program of ChinaProject Program of National Clinical Research Center for Geriatric Disorders(Xiangya Hospital)

82071437U20A20355821013422019SK23352021JJ311152016YFC13060002021YFC25021002021KFJJ10

2024

10.1097/CM9.0000000000002743

中华医学杂志(英文版)
中华医学会

中华医学杂志(英文版)

CSTPCD
影响因子：0.838
ISSN：0366-6999
年,卷(期)：2024.137(4)
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