Sparse whole-genome sequencing identifies two loci for major depressive disorder (original) (raw)
Change history
12 April 2019
Editors’ note: We would like to alert our readers to a change in the data availability for this manuscript. The genotype and whole genome sequence data used in this publication were made publicly available at the time of publication through the GigaDB database at http://gigadb.org/dataset/100155\. In March 2019, Nature was notified that the whole genome sequence data files have been removed from GigaDB. The genotype data files remain available at GigaDB. The whole genome sequence data was also made available in 2016 at NCBI with accession number PRJNA289433 (https://www.ncbi.nlm.nih.gov/bioproject/?term=PRJNA289433). In March 2019, Nature was notified that this dataset was subsequently withdrawn from NCBI by request of the submitter. We are currently investigating the data availability for the whole genome sequence data and will publish an update once our investigation is complete.
11 August 2023
A Correction to this paper has been published: https://doi.org/10.1038/s41586-023-06276-1
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Acknowledgements
This work was funded by the Wellcome Trust (WT090532/Z/09/Z, WT083573/Z/07/Z, WT089269/Z/09/Z), NIH grant MH-100549 and the Brain and Behavior Research Foundation. All authors are part of the CONVERGE consortium (China, Oxford and VCU Experimental Research on Genetic Epidemiology) and gratefully acknowledge the support of all partners in hospitals across China. W. Kretzschmar is funded by the Wellcome Trust (WT097307). N. Cai is supported by the Agency of Science, Technology and Research (A*STAR) Graduate Academy. J. Marchini is funded by an ERC Consolidator Grant (617306). Q. Xu is funded by the 973 Program (2013CB531301) and NSFC (31430048, 31222031).
Author information
Author notes
- A full list of authors and affiliations appears at the end of the paper.
- Na Cai, Tim B. Bigdeli, Warren Kretzschmar and Yihan Li: These authors contributed equally to this work.
- Qi Xu, Jun Wang, Kenneth S. Kendler and Jonathan Flint: These authors jointly supervised this work.
Authors and Affiliations
- Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, OX3 7BN, UK
Na Cai, Warren Kretzschmar, Yihan Li, Guangyi Fu, Jonathan Marchini, Richard Mott & Jonathan Flint - Virginia Institute for Psychiatric and Behavioral Genetics, Virginia Commonwealth University, Richmond, 23298, Virginia, USA
Tim B. Bigdeli, Mark Reimers, Todd Webb, Brien Riley, Silviu Bacanu, Roseann E. Peterson & Kenneth S. Kendler - BGI-Shenzhen, Floor 9 Complex Building, Beishan Industrial Zone, YantianDistrict, Shenzhen, 518083, Guangdong, China
Jieqin Liang, Li Song, Jingchu Hu, Qibin Li, Wei Jin, Zhenfei Hu, Guangbiao Wang, Linmao Wang, Puyi Qian, Yuan Liu, Tao Jiang, Yao Lu, Xiuqing Zhang, Ye Yin, Yingrui Li, Xun Xu, Huanming Yang, Jian Wang & Jun Wang - Zhejiang Traditional Chinese Medical Hospital, No.54 Youdian Road, Hangzhou, 310000, Zhejiang, China
Jingfang Gao - CTSU, Richard Doll Building, University of Oxford, Old Road Campus, Oxford, OX3 7LF, UK
Yiping Chen - Anhui Mental Health Center, No.316 Huangshan Road, Hefei, 230000, Anhui, China
Hui Zhong - Anshan Psychiatric Rehabilitation Hospital, No.127 Shuangshan Road, Lishan District, Anshan, 114000, Liaoning, China
Zhengrong Liu - Beijing Anding Hospital of Capital University of Medical Sciences, No.5 Ankang Hutong, Deshengmen wai, Xicheng District, Beijing, 100000, Beijing, China
Gang Wang - Brain Hospital of Nanjing Medical University, No.264 Guangzhou Road, Nanjing, 210000, Jiangsu, China
Jing Sun - Changchun Mental Hospital, No.4596 Beihuan Road, Changchun, 130000, Jilin, China
Hong Sang - Chongqing Mental Health Center, No.102 Jinzishan, Jiangbei District, Chongqing, 404100, China
Guoqing Jiang & Xiaoyan Zhou - Dalian No.7 Hospital, No.179 Lingshui Road, Ganjingzi District, Dalian, 116000, Liaoning, China
Yi Li - Wuhan Mental Health Center, No.70, Youyi Road, Wuhan, 430000, Hubei, China
Yi Li - Daqing No.3 Hospital of Heilongjiang Province, No.54 Xitai Road, Ranghulu district, Daqing, 163000, Heilongjiang, China
Wei Zhang - First Hospital of Hebei Medical University, No.89 Donggang Road, Shijiazhuang, 50000, Hebei, China
Xueyi Wang - Fuzhou Psychiatric Hospital, No.451 South Erhuan Road, Cangshan District, Fuzhou, 350000, Fujian, China
Xiang Fang - Guangxi Longquanshan Hospital, No.1 Jila Road, Yufeng District, Liuzhou, 545000, Guangxi Zhuangzu, China
Runde Pan - Guangzhou Brain Hospital, Guangzhou Psychiatric Hospital, No.36 Mingxin Road, Fangcun Avenue, Liwan District, Guangzhou, 510000, Guangdong, China
Guodong Miao - Hainan Anning Hospital, No.10 East Nanhai Avenue, Haikou, 570100, Hainan, China
Qiwen Zhang - Harbin Medical University, No.23 Youzheng street, Nangang District, Haerbin, 150000, Heilongjiang, China
Jian Hu - Harbin No.1 Special Hospital, No.217 Hongwei Road, Haerbin, 150000, Heilongjiang, China
Fengyu Yu - Hebei Mental Health Center, No.572 Dongfeng Road, Baoding, 71000, Hebei, China
Bo Du, Wenhua Sang & Keqing Li - Huaian No.3 Hospital, No.272 West Huaihai Road, Huaian, 223001, Jiangsu, China
Guibing Chen - Huzhou No.3 Hospital, No.255 Gongyuan Road, Huzhou, 313000, Zhejiang, China
Min Cai - Jilin Brain Hospital, No.98 West Zhongyang Road, Siping, 136000, Jilin, China
Lijun Yang - Jining Psychiatric Hospital, North Dai Zhuang, Rencheng District, Jining, 272000, Shandong, China
Donglin Yang - Liaocheng No. 4 Hospital, No.47 North Huayuan Road, Liaocheng, 252000, Shandong, China
Baowei Ha - Mental Health Center of Shantou University, No.243 Daxue Road, Shantou, 515000, Guangdong, China
Xiaohong Hong - Mental Health Center of West China Hospital of Sichuan University, No.28 South Dianxin Street, Wuhou District, Chengdu, 610000, Sichuan, China
Hong Deng - Mental Health Institute of Jining Medical College, Dai Zhuang, Bei Jiao, Jining, 272000, Shandong, China
Gongying Li - Mental Hospital of Jiangxi Province, No.43 Shangfang Road, Nanchang, 330000, Jiangxi, China
Kan Li - Mudanjiang Psychiatric Hospital of Heilongjiang Province, Xinglong, Mudanjiang, 157000, Heilongjiang, China
Yan Song - Ningbo Kang Ning Hospital, No.1 Zhuangyu Road, Zhenhai District, Ningbo, 315000, Zhejiang, China
Shugui Gao - No. 3 Hospital of Sun Yat-sen University, No.600 Tianhe Road, Tianhe District, Guangzhou, 510630, Guangdong, China
Jinbei Zhang & Zhaoyu Gan - No.1 Hospital of Chongqing Medical University, No.1 Youyi Road, Yuanjiagang, Yuzhong District, Chongqing, 400016, Chongqing, China
Huaqing Meng - No.1 Hospital of Jinan University, No.613 West Huangpu Avenue, Guangzhou, 510000, Guangdong, China
Jiyang Pan - No.1 Hospital of Medical College of Xian Jiaotong University, No. 277 West Yan Ta Road, Xian, 710061, Shaan Xi, China
Chengge Gao - No.1 Hospital of Shanxi Medical University, No.85 South Jiefang Road, Taiyuan, 30000, Shanxi, China
Kerang Zhang & Ning Sun - No.1 Hospital of Zhengzhou University, No.1 East Jianshe Road, Zhengzhou, 450000, Henan, China
Youhui Li & Qihui Niu - No.2 Hospital of Lanzhou University, No.82, Cuiyingmen, Lanzhou, 730000, Gansu, China
Yutang Zhang - No.2 Xiangya Hospital of Zhongnan University, No.139 Middle Renmin Road, Furong District, Changsha, 410000, Hunan, China
Tieqiao Liu - No.3 Hospital of Heilongjiang Province, No.135 Jiaotong Road, Beian, 164000, Heilongjiang, China
Chunmei Hu - No.4 Hospital of Jiangsu University, No.246 Nanmen Street, Zhenjiang, 212000, Jiangsu, China
Zhen Zhang - Psychiatric Hospital of Henan Province, No.388 Middle Jianshe Road, Xinxiang, 453000, Henan, China
Luxian Lv - Qingdao Mental Health Center, No.299 Nanjing Road, Shibei District, Qingdao, 266000, Shandong, China
Jicheng Dong - Renmin Hospital of Wuhan University, No.238 Jiefang Road, Wuchang District, Wuhan, 430000, Hubei, China
Xiaoping Wang - Second Affiliated Hospital of Zhejiang Chinese Medical University, No.318 Chaowang Road, Hangzhou, 310000, Zhejiang, China
Ming Tao - ShengJing Hospital of China Medical University, No.36 Sanhao Street, Heping District, Shenyang, 110001, Liaoning, China
Xumei Wang & Jing Xia - Shenzhen Key Lab for Psychological Healthcare, Kangning Hospital, No.1080, Cuizhu Street, Luohu District, Shenzhen, 518000, Guangdong, China
Han Rong - Department of General Internal Medicine, Kanazawa Medical University, Kahoku, 920-0293, Ishikawa, Japan
Qiang He - Shenzhen Key Lab for Psychological Healthcare;Shenzhen Kangning Hospital, No.1080, Cuizhu Street, Luohu District, Shenzhen, 518000, Guangdong, China
Tiebang Liu - Sichuan Mental Health Center, No.190, East Jiannan Road, Mianyang, 621000, Sichuan, China
Guoping Huang - Suzhou Guangji Hospital, No.286, Guangji Road, Suzhou, 215000, Jiangsu, China
Qiyi Mei - Tangshan No.5 Hospital, No.57 West Nanxin Road, Lunan District, Tangshan, Hebei, 63000, China
Zhenming Shen - The First Hospital of China Medical University, No.155 North Nanjing Street, Heping District, Shenyang, 110001, Liaoning, China
Ying Liu - Tianjin Anding Hospital, No.13 Liulin Road, Hexi District, 300000, Tianjin, China
Jianhua Shen & Tian Tian - Tianjin First Center Hospital, No.55 Xuetang Street, Xinkai Road, Hedong District, 300000, Tianjin, China
Xiaojuan Liu - Tongji University Hospital, No.389 Xinchun Road, Shanghai, 200000, China
Wenyuan Wu - Weihai Mental Health Center, Qilu Avenue, ETDZ, Weihai, 264200, Shandong, China
Danhua Gu - Xian Mental Health Center, No.15 Yanyin Road, New Qujiang District, Xian, 710000, Shaanxi, China
Jianguo Shi - Xijing Hospital of No.4 Military Medical University, No.17 West Changle Road, Xian, 710000, Shaanxi, China
Yunchun Chen - Department of Comparative Developmental Genetics, Max Planck Institute for Plant Breeding Research, Carl-von-Linne-Weg 10, Cologne, 50829, Germany
Xiangchao Gan - Shandong Mental Health Center, No.49 East Wenhua Road, Jinan, 250000, Shandong, China
Lanfen Liu & Lina Wang - Shanghai Jiao Tong University School of Medicine, Shanghai Mental Health Centre, No. 600 Wan Ping Nan Road, Shanghai, 200030, China
Fuzhong Yang, Enzhao Cong & Shenxun Shi - Department of Statistics, University of Oxford, Oxford, OX1 3TG, UK
Jonathan Marchini - Fudan University affiliated Huashan Hospital, No. 12 Wulumuqi Zhong Road, Shanghai, 200040, China
Shenxun Shi - National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences & Neuroscience Center, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 10005, China
Qi Xu - Department of Biology, University of Copenhagen, Ole Maal Oes Vej 5, Copenhagen, 2200, Denmark
Jun Wang - Macau University of Science and Technology, Avenida Wai long, Taipa, Macau 999078, China, Taipa, 999078, Macau, China
Jun Wang - Princess Al Jawhara Center of Excellence in the Research of Hereditary Disorders, King Abdulaziz University, Jeddah, 21589, Saudi Arabia
Jun Wang - East China Normal University, 3663 North Zhongshan Road, Shanghai, 200062, China
Jonathan Flint
Consortia
CONVERGE consortium
- Na Cai
- , Tim B. Bigdeli
- , Warren Kretzschmar
- , Yihan Li
- , Jieqin Liang
- , Li Song
- , Jingchu Hu
- , Qibin Li
- , Wei Jin
- , Zhenfei Hu
- , Guangbiao Wang
- , Linmao Wang
- , Puyi Qian
- , Yuan Liu
- , Tao Jiang
- , Yao Lu
- , Xiuqing Zhang
- , Ye Yin
- , Yingrui Li
- , Xun Xu
- , Jingfang Gao
- , Mark Reimers
- , Todd Webb
- , Brien Riley
- , Silviu Bacanu
- , Roseann E. Peterson
- , Yiping Chen
- , Hui Zhong
- , Zhengrong Liu
- , Gang Wang
- , Jing Sun
- , Hong Sang
- , Guoqing Jiang
- , Xiaoyan Zhou
- , Yi Li
- , Yi Li
- , Wei Zhang
- , Xueyi Wang
- , Xiang Fang
- , Runde Pan
- , Guodong Miao
- , Qiwen Zhang
- , Jian Hu
- , Fengyu Yu
- , Bo Du
- , Wenhua Sang
- , Keqing Li
- , Guibing Chen
- , Min Cai
- , Lijun Yang
- , Donglin Yang
- , Baowei Ha
- , Xiaohong Hong
- , Hong Deng
- , Gongying Li
- , Kan Li
- , Yan Song
- , Shugui Gao
- , Jinbei Zhang
- , Zhaoyu Gan
- , Huaqing Meng
- , Jiyang Pan
- , Chengge Gao
- , Kerang Zhang
- , Ning Sun
- , Youhui Li
- , Qihui Niu
- , Yutang Zhang
- , Tieqiao Liu
- , Chunmei Hu
- , Zhen Zhang
- , Luxian Lv
- , Jicheng Dong
- , Xiaoping Wang
- , Ming Tao
- , Xumei Wang
- , Jing Xia
- , Han Rong
- , Qiang He
- , Tiebang Liu
- , Guoping Huang
- , Qiyi Mei
- , Zhenming Shen
- , Ying Liu
- , Jianhua Shen
- , Tian Tian
- , Xiaojuan Liu
- , Wenyuan Wu
- , Danhua Gu
- , Guangyi Fu
- , Jianguo Shi
- , Yunchun Chen
- , Xiangchao Gan
- , Lanfen Liu
- , Lina Wang
- , Fuzhong Yang
- , Enzhao Cong
- , Jonathan Marchini
- , Huanming Yang
- , Jian Wang
- , Shenxun Shi
- , Richard Mott
- , Qi Xu
- , Jun Wang
- , Kenneth S. Kendler
- & Jonathan Flint
Contributions
Manuscript preparation: N. Cai, T. B. Bigdeli, W. Kretzschmar, M. Reimers, T. Webb, B. Riley, S. Bacanu, R. E. Peterson, K. S. Kendler and J. Flint. Replication sample: Q. Xu CONVERGE sample collection: Yih. Li, Y. Chen, H. Deng, W. Sang, Ke. Li, J. Gao, B. Ha, S. Gao, J. Hu, C. Hu, G. Huang, G. Jiang, X. Zhou, You. Li, Kan Li, Q. Niu, Yi Li, G. Li, L. Liu, Z. Liu, Yi Li, X. Fang, R. Pan, G. Miao, Q. Zhang, F. Yu, G. Chen, M. Cai, D. Yang, X. Hong, Y. Song, C. Gao, J. Pan, Y. Zhang, T. Liu, J. Dong, X. Wang, L. Wang, Q. Mei, Z. Shen, X. Liu, W. Wu, D. Gu, Y. Chen, T. Liu, H. Rong, Yi. Liu, L. Lv, H. Meng, H. Sang, J. Shen, T. Tian, J. Shi, J. Sun, M. Tao, X. Wang, J. Xia, Q. He, G. Wang, X. Wang, Lina Yang, K. Zhang, N. Sun, J. Zhang, Z. Gan, Z. Zhang, W. Zhang, H. Zhong, F. Yang, E. Cong, S. Shi, G. Fu, J. Flint and K. S. Kendler. Genome sequencing and analysis: J. Liang, J. Hu, Q. Li, W. Jin, Z. Hu, G. Wang, Linm. Wang, P. Qian, Yu. Liu, T. Jiang, Y. Lu, X. Zhang, Y. Yin, Yin. Li, H. Yang, Jia. Wang, X. Gan, Yih. Li, N. Cai, R. Mott, J. Flint, Jun Wang and X. Xu. Genotype imputation: W. Kretzschmar, J. Hu, L. Song, Q. Li, N. Cai and J. Marchini. Genetic analysis: N. Cai, T. Bigdeli, Yih. Li, R. E. Peterson, S. Bacanu, T. Webb, B. Riley, K. S. Kendler, R. Mott and J. Flint.
Corresponding authors
Correspondence toQi Xu, Jun Wang, Kenneth S. Kendler or Jonathan Flint.
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Competing interests
The author declare no competing financial interests.
Additional information
All sequence data and MDD results are freely available at http://dx.doi.org/10.5524/100155. GWAS results are also available at http://www.med.unc.edu/pgc/downloads.
Extended data figures and tables
Extended Data Figure 1 Quantile–quantile plots for major depressive disorder.
Quantile–quantile plot of GWAS for MDD using the mixed linear model with exclusion of the chromosome that the marker is on (MLMe) method implemented in FastLMM on 10,640 samples (5,303 cases, 5,337 controls). Genomic inflation factor λ = 1.070, rescaled for an equivalent study of 1,000 cases and 1,000 controls (λ 1000) = 1.013.
Extended Data Figure 2 Forest plots of estimated SNP effects in CONVERGE and PGC studies.
This figure presents the association odds ratios (OR) at 12 SNPs in CONVERGE and the best available proxy SNPs in PGC-MDD (pairwise r 2 > 0.6, 500 kb window; the proxy SNP is marked by an asterisk). We present the alternative allele frequency (freq), odds ratio (or) with respect to the alternative allele, standard error of odds ratio (se) and P values of association (pval) for the following analyses (study): primary association analysis with a linear-mixed model using imputed allele dosages in 10,640 samples in CONVERGE (pri); validation analysis with logistic regression model with principal components (PCs) as covariates using genotypes from Sequenom on 9,921 samples in CONVERGE (sqnm); association with MDD with a logistic regression model in a replication cohort of 6,417 samples using genotypes from Sequenom (repli); joint association analysis with MDD with a logistic regression model using imputed allele dosages in CONVERGE and genotypes from Sequenom in a replication cohort (17,057 samples in total; joint).
Extended Data Figure 3 Manhattan and quantile quantile plots for melancholia.
a, Manhattan plot of GWAS for melancholia using the MLMe method implemented in FastLMM on 9,846 samples (4,509 cases, 5,337 controls). b, Quantile–quantile plot of GWAS for melancholia; λ = 1.069, λ 1000 = 1.014. c, Regional association plot of GWAS hits on chromosome 10, focusing on top SNP rs80309727 at 5′ of SIRT1 gene, generated with LocusZoom.
Extended Data Figure 4 Empirical estimation of the odds ratio increases due to the removal of cases not falling under the diagnostic class of melancholia from an association analysis with major depression.
The figures show the empirical distributions of the odds ratios for association with each of two SNPs (rs79804696, rs35936514), after removing a random set of 796 samples, equal to the number of cases of MDD not diagnosed as being melancholic. The horizontal axis is the odds ratio for each analysis, and the vertical axis the frequency of occurrence of the odds ratio in 10,000 analyses. The vertical red line is the observed odds ratio after removing cases of MDD not diagnosed as melancholic.
Extended Data Table 1 Comparison between association results using imputed dosages and directly genotyped markers
Extended Data Table 2 Genotype distribution and P values for violation of the Hardy–Weinberg equilibrium in CONVERGE and replication cohorts
Extended Data Table 3 Single-marker association results of top CONVERGE hits in the PGC study of MDD
Extended Data Table 4 Polygenic risk profiling and binomial sign tests
Supplementary information
Supplementary Information
This file contains Supplemental Notes 1-2, Supplementary References and Supplementary Tables 1-3. (PDF 478 kb)
Supplementary Information
This file contains Supplementary Table 4, a list of SNPs associated with MDD with P values < 10-5. (XLSX 60 kb)
Supplementary Information
This file contains Supplementary Table 5, a list of SNPs associated with Melancholia with P values < 10-5. (XLSX 109 kb)
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CONVERGE consortium. Sparse whole-genome sequencing identifies two loci for major depressive disorder.Nature 523, 588–591 (2015). https://doi.org/10.1038/nature14659
- Received: 15 December 2014
- Accepted: 11 June 2015
- Published: 15 July 2015
- Issue date: 30 July 2015
- DOI: https://doi.org/10.1038/nature14659