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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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العنوان: Genome-wide association study using whole-genome sequencing identifies risk loci for Parkinson's disease in Chinese population
المؤلفون: Pan, Hongxu, Liu, Zhenhua, Ma, Jinghong, Li, Yuanyuan, Zhao, Yuwen, Zhou, Xiaoxia, Xiang, Yaqin, Wang, Yige, Zhou, Xun, He, Runcheng, Xie, Yali, Zhou, Qiao, Yuan, Kai, Xu, Qian, Sun, Qiying, Wang, Junling, Yan, Xinxiang, Zhang, Hainan, Wang, Chunyu, Lei, Lifang, Liu, Weiguo, Wang, Xuejing, Ding, Xuebing, Wang, Tao, Xue, Zheng, Zhang, Zhentao, Chen, Ling, Wang, Qing, Liu, Yonghong, Tang, Jiayu, Zhang, Xuewei, Peng, Shifang, Wang, Chaodong, Ding, Jianqing, Liu, Chunfeng, Wang, Lijuan, Chen, Haibo, Shen, Lu, Jiang, Hong, Wu, Xinyin, Tan, Hongzhuan, Luo, Dan, Xiao, Shuiyuan, Chen, Xiang, Tan, Jieqiong, Hu, Zhengmao, Chen, Chao, Xia, Kun, Zhang, Zhuohua, Foo, Jia Nee, Blauwendraat, Cornelis, Nalls, Mike A., Singleton, Andrew B., Liu, Jun, Chan, Piu, Zheng, Houfeng, Li, Jinchen, Guo, Jifeng, Yang, Jian, Tang, Beisha
المساهمون: Lee Kong Chian School of Medicine (LKCMedicine)
سنة النشر: 2023
المجموعة: DR-NTU (Digital Repository at Nanyang Technological University, Singapore)
مصطلحات موضوعية: Medicine, Health and Life Sciences, Parkinson disease, Chinese
الوصف: 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. ; Published version ; This study was supported by the National Key Research and Development Program of China (Grant No. 2016YFC1306000), the Hunan Innovative Province Construction Project (Grant No. 2019SK2335), the Science and Technology Major Project of Hunan ...
نوع الوثيقة: article in journal/newspaper
وصف الملف: application/pdf
اللغة: English
تدمد: 2373-8057
Relation: NPJ Parkinson's disease; Pan, H., Liu, Z., Ma, J., Li, Y., Zhao, Y., Zhou, X., Xiang, Y., Wang, Y., Zhou, X., He, R., Xie, Y., Zhou, Q., Yuan, K., Xu, Q., Sun, Q., Wang, J., Yan, X., Zhang, H., Wang, C., .Tang, B. (2023). Genome-wide association study using whole-genome sequencing identifies risk loci for Parkinson's disease in Chinese population. NPJ Parkinson's Disease, 9(1), 22-. https://dx.doi.org/10.1038/s41531-023-00456-6; https://hdl.handle.net/10356/173730; 2-s2.0-85147945222; 22
DOI: 10.1038/s41531-023-00456-6
الاتاحة: https://hdl.handle.net/10356/173730
https://doi.org/10.1038/s41531-023-00456-6
Rights: © The Author(s) 2023. Open Access. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http:// creativecommons.org/licenses/by/4.0/.
رقم الانضمام: edsbas.5EA9D43D
قاعدة البيانات: BASE
الوصف
تدمد:23738057
DOI:10.1038/s41531-023-00456-6