ArticleNature genetics2024
Analysis of blood methylation quantitative trait loci in East Asians reveals ancestry-specific impacts on complex traits.
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Article in Nature genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 2 of them syntheses that pooled it.
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32citing papers in PubMed, 2 pooled it
7.9field-weighted citation impact, top 2% of its field
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32 citing papers in PubMed, 2 syntheses or guidelines pooled it, 36 citations in OpenAlex.
- Identification ofFrontiers in immunology · 2026Pooled it
- Pooled it
- Genome-wide DNA methylation analysis revealed epigenetic mechanism underlying end-stage renal disease.Nature communications · 2026Article
- The OmniAge compendium of aging omic biomarkers links mitotic clocks to clonal hematopoiesis and causality.Nature communications · 2026Article
- Population epigenetics: deciphering DNA methylation diversity and its implications for health, disease, and evolution.Molecular biology and evolution · 2026Review
- DeepMethylation: A deep learning framework for tissue-specific DNA methylation prediction and functional variant annotation.PLoS computational biology · 2026Article
- The genetic basis for DNA methylation variation across tissues and development.Nature communications · 2026Article
- Epigenome-wide Mendelian randomization with multi-omics validation identifies epigenetic drivers of idiopathic pulmonary fibrosis.Communications biology · 2026Article
- Systematic investigation of interindividual variation of DNA methylation in human whole blood.Genome biology · 2026Article
- Identification of SENP7 and UTF1/VENTX as new loci influencing clustered protocadherin methylation across blood and brain using a genome-wide association study.Molecular psychiatry · 2026Article
- Guidelines on optimizing DNA methylation reference panels for cell-type deconvolution.Communications biology · 2026Article
- Genetic regulation of methylation across East Asian and European populations.Nature communications · 2026Article
- Genetics and environment distinctively shape the human immune cell epigenome.Nature genetics · 2026Article
- EWAS Open Platform 2026: a deeply integrated resource for epigenome-wide association studies.Nucleic acids research · 2026Article
- DNA methylation predicts adverse outcomes of coronary artery disease.Nature communications · 2025Article
- Article
- Mapping the landscape of cell type-dependent genetic regulation of DNA methylation across human tissues.Research square · 2025Article
- Epigenetic drift score captures directional methylation variability and links aging to transcriptional, metabolic, and genetic alterations.Genome research · 2025Article
- TumorXDB: an integrated multi-omics xWAS/xQTL platform for cross-ethnic pan-cancer analysis.Journal of translational medicine · 2025Article
- Placental DNA methylation key topics: sex- and cell-type specificity, mediation, multi-omics, and biomarker discovery.Epigenomics · 2025Review
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Authors and funding
33 authors at 9 institutions in 3 countries.
Qianqian Peng *CAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, China.ORCID http://orcid.org/0000-0002-2018-5706
Xinxuan Liu *CAS Key Laboratory of Genomic and Precision Medicine, Beijing Institute of Genomics, Chinese Academy of Sciences and China National Center for Bioinformation, Beijing, China.ORCID http://orcid.org/0000-0002-1653-1434
Wenran Li *CAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, China.
Han Jing *CAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, China.ORCID http://orcid.org/0000-0003-4211-1975
Jiarui LiCAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, China.ORCID http://orcid.org/0000-0003-0581-5850
Xingjian GaoCAS Key Laboratory of Genomic and Precision Medicine, Beijing Institute of Genomics, Chinese Academy of Sciences and China National Center for Bioinformation, Beijing, China.ORCID http://orcid.org/0000-0002-6142-8102
Qi LuoCAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, China.
Charles E BreezeAltius Institute for Biomedical Sciences, Seattle, WA, USA.ORCID http://orcid.org/0000-0002-5294-915X
Siyu PanCAS Key Laboratory of Genomic and Precision Medicine, Beijing Institute of Genomics, Chinese Academy of Sciences and China National Center for Bioinformation, Beijing, China.
Qiwen ZhengCAS Key Laboratory of Genomic and Precision Medicine, Beijing Institute of Genomics, Chinese Academy of Sciences and China National Center for Bioinformation, Beijing, China.
Guochao LiCAS Key Laboratory of Genomic and Precision Medicine, Beijing Institute of Genomics, Chinese Academy of Sciences and China National Center for Bioinformation, Beijing, China.ORCID http://orcid.org/0000-0002-1504-3471
Jiaqiang QianCAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, China.
Liyun YuanCAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, China.ORCID http://orcid.org/0000-0001-9122-6782
Na YuanCAS Key Laboratory of Genomic and Precision Medicine, Beijing Institute of Genomics, Chinese Academy of Sciences and China National Center for Bioinformation, Beijing, China.
Chenglong YouCAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, China.
Siyuan DuCAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, China.ORCID http://orcid.org/0000-0003-1602-1669
Yuanting ZhengState Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, and Human Phenome Institute, Fudan University, Shanghai, China.
Ziyu YuanTaizhou Institute of Health Sciences, Fudan University, Taizhou, China.
Jingze TanMinistry of Education Key Laboratory of Contemporary Anthropology, Department of Anthropology and Human Genetics, School of Life Sciences, Fudan University, Shanghai, China.
Peilin JiaCAS Key Laboratory of Genomic and Precision Medicine, Beijing Institute of Genomics, Chinese Academy of Sciences and China National Center for Bioinformation, Beijing, China.
Jiucun WangState Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, and Human Phenome Institute, Fudan University, Shanghai, China.ORCID http://orcid.org/0000-0003-2765-0620
Guoqing ZhangCAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, China.
Xianping LuShenzhen Chipscreen Biosciences Co. Ltd., Shenzhen, China.
Leming ShiState Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, and Human Phenome Institute, Fudan University, Shanghai, China.ORCID http://orcid.org/0000-0002-2981-4150
Shicheng GuoDepartment of Medical Genetics, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI, USA.
Yun LiuMOE Key Laboratory of Metabolism and Molecular Medicine, Department of Biochemistry and Molecular Biology, School of Basic Medical Sciences, Fudan University, Shanghai, China.ORCID http://orcid.org/0000-0001-5753-1265
Ting NiState Key Laboratory of Genetic Engineering, Collaborative Innovation Center of Genetics and Development, Human Phenome Institute, School of Life Sciences and Huashan Hospital, Fudan University, Shanghai, China.ORCID http://orcid.org/0000-0001-7007-1072
Bo WenState Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, and Human Phenome Institute, Fudan University, Shanghai, China.ORCID http://orcid.org/0000-0003-0394-7366
Changqing ZengCAS Key Laboratory of Genomic and Precision Medicine, Beijing Institute of Genomics, Chinese Academy of Sciences and China National Center for Bioinformation, Beijing, China.ORCID http://orcid.org/0000-0002-0037-1771
Li JinState Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, and Human Phenome Institute, Fudan University, Shanghai, China.ORCID http://orcid.org/0000-0001-9201-2321
Andrew E TeschendorffCAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, China. andrew@picb.ac.cn.ORCID http://orcid.org/0000-0001-7410-6527
Fan LiuCAS Key Laboratory of Genomic and Precision Medicine, Beijing Institute of Genomics, Chinese Academy of Sciences and China National Center for Bioinformation, Beijing, China. fliu@nauss.edu.sa.ORCID http://orcid.org/0000-0001-9241-8161
Sijia WangCAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, China. wangsijia@picb.ac.cn.ORCID http://orcid.org/0000-0001-6961-7867
Shanghai Institute of Nutrition and Health · CNChinese Academy of Sciences · CNFudan University · CNChinese Academy of Medical Sciences & Peking Union Medical College · CNAltius Institute for Biomedical Sciences · USBeijing Institute of Genomics · CNKunming Institute of Zoology · CNShenzhen Chipscreen Biosciences Co.University of Wisconsin–Madison · US
Funding
China Postdoctoral Science Foundation 2021M693274China Postdoctoral Science Foundation BX2021336Ministry of Science and Technology of the People's Republic of China (Chinese Ministry of Science and Technology) 2015FY111700National Natural Science Foundation of China (National Science Foundation of China) 31970632National Natural Science Foundation of China (National Science Foundation of China) 32170652National Natural Science Foundation of China (National Science Foundation of China) 32170657National Natural Science Foundation of China (National Science Foundation of China) 32200472National Natural Science Foundation of China (National Science Foundation of China) 32370699National Natural Science Foundation of China (National Science Foundation of China) 81930056National Natural Science Foundation of China (National Science Foundation of China) 91631307National Natural Science Foundation of China (National Science Foundation of China) 92249306Science and Technology Commission of Shanghai Municipality (Shanghai Municipal Science and Technology Commission) 2017SHZDZX01
Abstract
Methylation quantitative trait loci (mQTLs) are essential for understanding the role of DNA methylation changes in genetic predisposition, yet they have not been fully characterized in East Asians (EAs). Here we identified mQTLs in whole blood from 3,523 Chinese individuals and replicated them in additional 1,858 Chinese individuals from two cohorts. Over 9% of mQTLs displayed specificity to EAs, facilitating the fine-mapping of EA-specific genetic associations, as shown for variants associated with height. Trans-mQTL hotspots revealed biological pathways contributing to EA-specific genetic associations, including an ERG-mediated 233 trans-mCpG network, implicated in hematopoietic cell differentiation, which likely reflects binding efficiency modulation of the ERG protein complex. More than 90% of mQTLs were shared between different blood cell lineages, with a smaller fraction of lineage-specific mQTLs displaying preferential hypomethylation in the respective lineages. Our study provides new insights into the mQTL landscape across genetic ancestries and their downstream effects on cellular processes and diseases/traits.
Indexed as
DNA MethylationEast Asian PeopleQuantitative Trait LociFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMultifactorial InheritancePolymorphism, Single Nucleotide
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