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Genome-wide association study using whole-genome sequencing identifies risk loci for Parkinson's disease in Chinese population

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作者：
Pan Hongxu[1] * ; Liu Zhenhua[1,2] * ; Ma Jinghong[3] ; Li Yuanyuan[4] ; Zhao Yuwen[1] ; Zhou Xiaoxia[1] ; Xiang Yaqin[1] ; Wang Yige[1] ; Zhou Xun[1] ; He Runcheng[1] ; Xie Yali[2] ; Zhou Qiao[2] ; Yuan Kai[2,5] ; Xu Qian[1] ; Sun Qiying[6] ; Wang Junling[1] ; Yan Xinxiang[1] ; Zhang Hainan[7] ; Wang Chunyu[7] ; Lei Lifang[8] ; Liu Weiguo[9] ; Wang Xuejing[10] ; Ding Xuebing[10] ; Wang Tao[11] ; Xue Zheng[12] ; Zhang Zhentao[13] ; Chen Ling[14] ; Wang Qing[15] ; Liu Yonghong[16] ; Tang Jiayu[17] ; Zhang Xuewei[18] ; Peng Shifang[18] ; Wang Chaodong[3] ; Ding Jianqing[19] ; Liu Chunfeng[20] ; Wang Lijuan[21] ; Chen Haibo[22] ; Shen Lu[1] ; Jiang Hong[1,23] ; Wu Xinyin[24] ; Tan Hongzhuan[24] ; Luo Dan[25] ; Xiao Shuiyuan[25] ; Chen Xiang[26] ; Tan Jieqiong[27] ; Hu Zhengmao[27] ; Chen Chao[27] ; Xia Kun[27] ; Zhang Zhuohua[5,27] ; Foo Jia Nee[28] ; Blauwendraat Cornelis[29] ; Nalls Mike A[29,30,31] ; Singleton Andrew B[29,30] ; Liu Jun[4] ; Chan Piu[3] ; Zheng Houfeng[32] ; Li Jinchen[1,2,27] ; Guo Jifeng[1,2,23] ; Yang Jian[33] ; Tang Beisha[1,2,23,27] ; the Parkinson’s Disease & Movement Disorders Multicenter Database and Collaborative Network in China[PD-MDCNC] ;
机构： [1]Department of Neurology, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, China. [2]National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, China. [3]Department of Neurology, National Clinical Research Center for Geriatric Diseases, Xuanwu Hospital of Capital Medical University, 100053, Beijing, China. [4]Department of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, 200025, Shanghai, China. [5]Hunan Key Laboratory of Molecular Precision Medicine, Department of Oncology, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, China. [6]Department of Geriatrics, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, China. [7]Department of Neurology, The Second Xiangya Hospital, Central South University, 410011, Changsha, Hunan, China. [8]Department of Neurology, The Third Xiangya Hospital, Central South University, 410013, Changsha, Hunan, China. [9]Department of Neurology, Affiliated Brain Hospital of Nanjing Medical University, 210029, Nanjing, Jiangsu, China. [10]Department of Neurology, The First Affiliated Hospital of Zhengzhou University, 450047, Zhengzhou, Henan, China. [11]Department of Neurology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, 430022, Wuhan, Hubei, China. [12]Department of Neurology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, 430030, Wuhan, Hubei, China. [13]Department of Neurology, Renmin Hospital of Wuhan University, 430060, Wuhan, Hubei, China. [14]Department of Neurology, First Affiliated Hospital, Sun Yat-sen University, 510080, Guangzhou, Guangdong, China. [15]Department of Neurology, Zhujiang Hospital of Southern Medical University, 510280, Guangzhou, Guangdong, China. [16]Health Management Center, Hunan Provincial Brain Hospital, 410021, Changsha, Hunan, China. [17]Department of Neurology, Hunan Provincial Brain Hospital, 410021, Changsha, Hunan, China. [18]Department of Health Management Center, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, China. [19]Institute of Aging & Tissue Regeneration, Renji Hospital, Shanghai Jiao Tong University School of Medicine, 200025, Shanghai, China. [20]Department of Neurology and Clinical Research Center of Neurological Disease, The Second Affiliated Hospital of Soochow University, 215004, Suzhou, Jiangsu, China. [21]Department of Neurology, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, 510080, Guangzhou, Guangdong, China. [22]Department of Neurology, National Center of Gerontology, Beijing Hospital, 100005, Beijing, China. [23]Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, 410008, Changsha, Hunan, China. [24]Department of Epidemiology and Health Statistics, Xiangya School of Public Health, Central South University, 410028, Changsha, Hunan, China. [25]Department of Social Medicine and Health Management, Xiangya School of Public Health, Central South University, 410028, Changsha, Hunan, China. [26]The Department of Dermatology, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, China. [27]Centre for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, 410012, Changsha, Hunan, China. [28]Lee Kong Chian School of Medicine, Nanyang Technological University Singapore, Singapore, 308232, Singapore. [29]Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, 20892, USA. [30]Center for Alzheimer's and Related Dementias, National Institute on Aging, National Institutes of Health, Bethesda, MD, 20892, USA. [31]Data Tecnica International, Washington, DC, 20037, USA. [32]Diseases & Population (DaP) Geninfo Lab, School of Life Sciences, Westlake University, 310024, Hangzhou, Zhejiang, China. [33]School of Life Sciences, Westlake University, 310024 Hangzhou, Zhejiang, China [34]National Clinical Research Centre for Geriatric Disorders, Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, China.
出处：
DOI： 10.1038/s41531-023-00456-6
ISSN：

摘要：
Genome-wide association studies (GWASs) have identified numerous susceptibility loci for Parkinson's disease (PD), but its genetic architecture remains underexplored in populations of non-European ancestry. To identify genetic variants associated with PD in the Chinese population, we performed a GWAS using whole-genome sequencing (WGS) in 1,972 cases and 2,478 controls, and a replication study in a total of 8209 cases and 9454 controls. We identified one new risk variant rs61204179 (Pcombined = 1.47 × 10-9) with low allele frequency, four previously reported risk variants (NUCKS1/RAB29-rs11557080, SNCA-rs356182, FYN-rs997368, and VPS13C-rs2251086), as well as three risk variants in LRRK2 coding region (A419V, R1628P, and G2385R) with genome-wide significance (P < 5 × 10-8) for PD in Chinese population. Moreover, of the reported genome-wide significant risk variants found mostly in European ancestry populations, the correlation coefficient (rb) of effect size accounting for sampling errors was 0.91 between datasets and 63.6% attained P < 0.05 in Chinese population. Accordingly, we estimated a heritability of 0.14-0.18 for PD, and a moderate genetic correlation between European ancestry and Chinese populations (rg = 0.47, se = 0.21). Polygenic risk score (PRS) analysis revealed that individuals with PRS values in the highest quartile had a 3.9-fold higher risk of developing PD than the lowest quartile. In conclusion, the present GWAS identified PD-associated variants in Chinese population, as well as genetic factors shared among distant populations. Our findings shed light on the genetic homogeneity and heterogeneity of PD in different ethnic groups and suggested WGS might continue to improve our understanding of the genetic architecture of PD.© 2023. The Author(s).

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出版当年[2022]版：
大类 | 2 区 医学
小类 | 2 区 神经科学
最新[2023]版：
大类 | 1 区 医学
小类 | 1 区 神经科学
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Q1 NEUROSCIENCES
最新[2023]版：
Q1 NEUROSCIENCES

影响因子： 最新[2023版] 最新五年平均 出版当年[2021版] 出版当年五年平均 出版前一年[2020版] 出版后一年[2022版]

第一作者：
第一作者机构： [1]Department of Neurology, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, China.
共同第一作者：
推荐引用方式(GB/T 7714)：
Pan Hongxu,Liu Zhenhua,Ma Jinghong,et al.Genome-wide association study using whole-genome sequencing identifies risk loci for Parkinson's disease in Chinese population[J].NPJ PARKINSONS DISEASE.2023,9(1):doi:10.1038/s41531-023-00456-6.
APA：
Pan Hongxu,Liu Zhenhua,Ma Jinghong,Li Yuanyuan,Zhao Yuwen...&the Parkinson’s Disease & Movement Disorders Multicenter Database and Collaborative Network in China.(2023).Genome-wide association study using whole-genome sequencing identifies risk loci for Parkinson's disease in Chinese population.NPJ PARKINSONS DISEASE,9,(1)
MLA：
Pan Hongxu,et al."Genome-wide association study using whole-genome sequencing identifies risk loci for Parkinson's disease in Chinese population".NPJ PARKINSONS DISEASE 9..1(2023)

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