Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations

Chen, Ming-Huei, Raffield, Laura M., Mousas, Abdou, Sakaue, Saori, Huffman, Jennifer E., Moscati, Arden, Trivedi, Bhavi, Jiang, Tao +102 more·2020·Cell

DOI 10.1016/j.cell.2020.06.045

Cited by (693)

Items 101–200 of 693

Genetic architecture of routinely acquired blood tests in a British South Asian cohort
Benjamin M. Jacobs, Daniel Stow, Sam Hodgson, Julia Zöllner, Miriam Samuel, Stavroula Kanoni, Saeed Bidi, Shaheen Akhtar, Mohammad Anwar, Elena Arciero et al. · 2024 · Nature Communications
Transcription factor networks disproportionately enrich for heritability of blood cell phenotypes
Jorge Diego Martin-Rufino, Alexis Caulier, Seayoung Lee, Nicole Castano, Emily King, Samantha R. Joubran, Marcus Kenneth Jones, Seth Raphael Goldman, Uma P. Arora, Lara Wahlster et al. · 2025 · Science
Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifies known and novel cross-population and ancestry-specific associations as novel risk loci for Alzheimer’s disease
Farid Rajabli, Penelope H. Benchek, Giuseppe Tosto, Nicholas A. Kushch, Jin Sha, Katrina Bazemore, Congcong Zhu, Wan‐Ping Lee, Jacob Haut, Kara L. Hamilton‐Nelson et al. · 2025 · Genome biology
Population-Matched Transcriptome Prediction Increases TWAS Discovery and Replication Rate
Elyse Geoffroy, Isabelle Gregga, Heather E. Wheeler · 2020 · iScience
Common host variation drives malaria parasite fitness in healthy human red cells
Emily R. Ebel, Frans A. Kuypers, Carrie Lin, Dmitri A. Petrov, Elizabeth S. Egan · 2021 · eLife
Rare and common genetic variants shape single-cell immune gene expression
Anna S. E. Cuomo, Eleanor Spenceley, Hope A. Tanudisastro, Blake Bowen, Albert Henry, Hao Lawrence Huang, Angli Xue, Wei Zhou, Matthew J. Welland, Samantha J. Bryen et al. · 2026 · Nature
Deep learning and genome-wide association meta-analyses of bone marrow adiposity in the UK Biobank
Wei Xu, Ines Mesa‐Eguiagaray, David M. Morris, Chengjia Wang, Calum D. Gray, Samuel Sjöström, Giorgos Papanastasiou, Sammy Badr, Julien Paccou, Xue Li et al. · 2025 · Nature Communications
Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood
Yasminka A. Jakubek, Xiaolong Ma, Adrienne M. Stilp, Fulong Yu, Jason Bacon, Justin Wong, François Aguet, Kristin Ardlie, Donna K. Arnett, Kathleen Barnes et al. · 2025 · The American Journal of Human Genetics
Common and Rare 5′UTR Variants Altering Upstream Open Reading Frames in Cardiovascular Genomics
Omar Soukarieh, Caroline Meguerditchian, Carole Proust, Dylan Aïssi, Mélanie Eyries, Aurélie Goyenvalle, David‐Alexandre Trégouët · 2022 · Frontiers in Cardiovascular Medicine
Disinfection By-Products in Drinking Water and Bladder Cancer: Evaluation of Risk Modification by Common Genetic Polymorphisms in Two Case–Control Studies
Laura E. Beane Freeman, Manolis Kogevinas, Kenneth P. Cantor, Cristina M. Villanueva, Ludmila Prokunina‐Olsson, Oscar Flórez-Vargas, Jonine D. Figueroa, Mary H. Ward, Stella Koutros, Dalsu Baris et al. · 2022 · Environmental Health Perspectives
Genome-wide admixture and association analysis identifies African ancestry–specific risk loci of eosinophilic esophagitis in African Americans
Yadu Gautam, Julie M. Caldwell, Leah Claire Kottyan, Mirna Chehade, Evan S. Dellon, Marc E. Rothenberg, Tesfaye Mersha Baye, Joshua B. Wechsler, Carla Davis, Glenn T. Furuta et al. · 2022 · Journal of Allergy and Clinical Immunology
Identification of Three Novel Susceptibility Loci for Inflammatory Bowel Disease in Koreans in an Extended Genome-Wide Association Study
Seulgi Jung, Byong Duk Ye, Ho‐Su Lee, Jiwon Baek, Gyeonghoon Kim, Dohoon Park, Sang Hyoung Park, Suk‐Kyun Yang, Buhm Han, Jianjun Liu et al. · 2021 · Journal of Crohn s and Colitis
Analysis of MRI-derived spleen iron in the UK Biobank identifies genetic variation linked to iron homeostasis and hemolysis
Elena P. Sorokin, Nicolas Basty, Brandon J. Whitcher, Yi Liu, Jimmy David Bell, Robert L. Cohen, Madeleine Cule, Elizabeth Louise Thomas · 2022 · The American Journal of Human Genetics
Multi‐Omics Studies in Historically Excluded Populations: The Road to Equity
Guang Yang, Mrinal Mishra, Minoli A. Perera · 2022 · Clinical Pharmacology & Therapeutics
Mendelian randomization and colocalization analyses reveal an association between short sleep duration or morning chronotype and altered leukocyte telomere length
Jingyi Hu, Jiawen Lu, Qiuhan Lu, Weipin Weng, Zixuan Guan, Zhenqian Wang · 2023 · Communications Biology
Inherited polygenic effects on common hematological traits influence clonal selection on JAK2V617F and the development of myeloproliferative neoplasms
Jing Guo, Klaudia Walter, Pedro M. Quirós, Muxin Gu, E. Joanna Baxter, John Danesh, Emanuele Di Angelantonio, David J. Roberts, Paola Guglielmelli, Claire N. Harrison et al. · 2024 · Nature Genetics
A genome-wide association study reveals the relationship between human genetic variation and the nasal microbiome
Xiaomin Liu, Xin Tong, Leying Zou, Yanmei Ju, Mingliang Liu, Mo Han, Haorong Lu, Huanming Yang, Jian Wang, Yang Zong et al. · 2024 · Communications Biology
Structural variation across 138,134 samples in the TOPMed consortium
Goo Jun, Adam C. English, Ginger Metcalf, Jianzhi Yang, Mark Chaisson, Nathan Pankratz, Vipin K. Menon, William J. Salerno, Olga A. Krasheninina, Albert V. Smith et al. · 2023 · bioRxiv (Cold Spring Harbor Laboratory)
Genetic Adaptations of the Tibetan Pig to High-Altitude Hypoxia on the Qinghai–Tibet Plateau
Yanan Yang, Haonan Yuan, Boyuan Yao, Shengguo Zhao, Xinrong Wang, Linna Xu, Lingyun Zhang · 2024 · International Journal of Molecular Sciences
Heritability and family-based GWAS analyses of the N -acyl ethanolamine and ceramide plasma lipidome
Kathryn A. McGurk, Simon G. Williams, Hui Guo, Hugh C Watkins, Martin Farrall, Heather Jane Cordell, Anna Nicolaou, Bernard D. Keavney · 2021 · Human Molecular Genetics
A single‐nucleus transcriptomics study of alcohol use disorder in the nucleus accumbens
Edwin J. C. G. van den Oord, Lin Ying Xie, Min Zhao, Karolina A. Åberg, Shaunna L. Clark · 2022 · Addiction Biology
Multiset correlation and factor analysis enables exploration of multi-omics data
Brielin C. Brown, Collin Wang, Silva Kasela, François Aguet, Daniel C. Nachun, Kent D. Taylor, Russell P. Tracy, Peter Durda, Yongmei Liu, W. Craig Johnson et al. · 2023 · Cell Genomics
Investigating causal relationships between obesity and skin barrier function in a multi-ethnic Asian general population cohort
Yik Weng Yew, Theresia Handayani Mina, Hong Kiat Ng, Benjamin Chih Chiang Lam, Elio Ríboli, Eng Sing Lee, Jimmy Lee, Joanne Yuen Yie Ngeow, Paul Elliott, Steven Tien Guan Thng et al. · 2023 · International Journal of Obesity
COLOCdb: a comprehensive resource for multi-model colocalization of complex traits
Siyu Pan, Hongen Kang, Xinxuan Liu, Shuhua Li, Peng Yang, Mingqiu Wu, Na Yuan, Shiqi Lin, Qiwen Zheng, Peilin Jia · 2023 · Nucleic Acids Research
Pleiotropic Effects of Common and Rare GCKR Exonic Mutations on Cardiometabolic Traits
Kuan-Hung Yeh, Lung‐An Hsu, Ming‐Sheng Teng, Semon Wu, Hsin‐Hua Chou, Yu‐Lin Ko · 2022 · Genes
Ribosomal DNA copy number variation associates with hematological profiles and renal function in the UK Biobank
Francisco Rodríguez-Algarra, David M. Evans, Vardhman K. Rakyan · 2024 · Cell Genomics
Oral and non-oral lichen planus show genetic heterogeneity and differential risk for autoimmune disease and oral cancer
Mary Pat Reeve, Mari Vehviläinen, Shuang Luo, Jarmo Ritari, Juha M Karjalainen, Javier Gracia Tabuenca, Juha Mehtonen, Shanmukha Sampath Padmanabhuni, Nikita Kolosov, Mykyta Artomov et al. · 2024 · The American Journal of Human Genetics
Multi-ethnic genome-wide association analyses of white blood cell and platelet traits in the Population Architecture using Genomics and Epidemiology (PAGE) study
Yao Hu, Stephanie A. Bien, Katherine K. Nishimura, Jeffrey Haessler, Chani J. Hodonsky, Antoine Baldassari, Heather M. Highland, Zhe Wang, Michael H Preuss, Colleen M. Sitlani et al. · 2021 · BMC Genomics
Genetic variants associated with platelet count are predictive of human disease and physiological markers
E. Mikaelsdottir, G. Thorleifsson, L. Stefánsdóttir, G. Halldorsson, J. K. Sigurdsson, S. Lund, V. Tragante, P. Melsted, S. Rognvaldsson, Kristjan Norland et al. · 2021 · Communications Biology
How (Epi)Genetic Regulation of the LIM-Domain Protein FHL2 Impacts Multifactorial Disease
Jayron J. Habibe, Maria P. Clemente-Olivo, Carlie J.M. de Vries · 2021 · Cells
Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed program
Marsha M. Wheeler, Adrienne M. Stilp, Shuquan Rao, Bjarni V. Halldórsson, Doruk Beyter, Jia Wen, Anna V. Mikhaylova, Caitlin McHugh, John Lane, Min-Zhi Jiang et al. · 2022 · Nature Communications
Causal relationship between the blood immune cells and intervertebral disc degeneration: univariable, bidirectional and multivariable Mendelian randomization
Chaofan Qin, Mingxin Chen, Qingshuai Yu, Xin Wang, Tao Hu, Bo Lei, Zhengjian Yan, Si Cheng · 2024 · Frontiers in Immunology
Genetic evidence for involvement of β2-adrenergic receptor in brown adipose tissue thermogenesis in humans
Yuka Ishida, Mami Matsushita, Takeshi Yoneshiro, Masayuki Saito, Sayuri Fuse, Takafumi Hamaoka, Miyuki Kuroiwa, Riki Tanaka, Yuko Kurosawa, Takayuki Nishimura et al. · 2024 · International Journal of Obesity
Whole genome sequence analysis of platelet traits in the NHLBI Trans-Omics for Precision Medicine (TOPMed) initiative
Amarise Little, Yao Hu, Quan Sun, Deepti Jain, Jai Broome, Ming‐Huei Chen, Florian Thibord, Caitlin McHugh, Praveen Surendran, Thomas W. Blackwell et al. · 2021 · Human Molecular Genetics
The emerging Janus face of SVEP1 in development and disease
Jared S. Elenbaas, In‐Hyuk Jung, Ariella L. G. Coler-Reilly, Paul C. Lee, Arturo E. Alisio, Nathan O. Stitziel · 2023 · Trends in Molecular Medicine
Identifying genetic variants that influence the abundance of cell states in single-cell data
Laurie Rumker, Saori Sakaue, Yakir Reshef, Joyce B. Kang, Seyhan Yazar, José Alquicira-Hernández, Cristian Valencia, Kaitlyn A. Lagattuta, Annelise Yoo Mah-Som, Aparna Nathan et al. · 2024 · Nature Genetics
MR-link-2: pleiotropy robust cis Mendelian randomization validated in three independent reference datasets of causality
Adriaan van der Graaf, Robert Warmerdam, Chiara Auwerx, Toni Boltz, Dorret Irene Boomsma, Andrew Brown, Evans K. Cheruiyot, Emma E. Davenport, Théo Dupuis, Tõnu Esko et al. · 2025 · Nature Communications
Thyroid function, pernicious anemia and erythropoiesis: a two-sample Mendelian randomization study
Alisa Devedzic Kjaergaard, Alexander Teumer, Eirini Marouli, Panos Deloukas, Aleksander Kuś, Rosalie B. T. M. Sterenborg, Bjørn Olav Åsvold, Marco Medici, Christina Ellervik · 2022 · Human Molecular Genetics
A Multi-Trait Association Analysis of Brain Disorders and Platelet Traits Identifies Novel Susceptibility Loci for Major Depression, Alzheimer’s and Parkinson’s Disease
Alfonsina Tirozzi, Miriam Shasa Quiccione, Chiara Cerletti, Maria Benedetta Donati, Giovanni de Gaetano, Licia Iacoviello, Alessandro Gialluisi · 2023 · Cells
Genome-wide DNA methylation association study of recent and cumulative marijuana use in middle aged adults
Drew Robert Nannini, Yinan Zheng, Brian Thomas Joyce, Kyeezu Kim, Tao Gao, Jun Wang, David R. Jacobs, Pamela J. Schreiner, Kristine S. Yaffe, Philip Greenland et al. · 2023 · Molecular Psychiatry
A scalable approach for genome-wide inference of ancestral recombination graphs
Arni F. Gunnarsson, Jiazheng Zhu, Brian C. Zhang, Zoi Tsangalidou, Alex Allmont, Pier Francesco Palamara · 2024 · bioRxiv (Cold Spring Harbor Laboratory)
Advances in understanding the pathogenesis of hereditary macrothrombocytopenia
Janine Collins, William John Astle, Karyn Mégy, Andrew David Mumford, Dragana Vuckovic · 2021 · British Journal of Haematology
Cross-ancestry genome-wide association studies identified heterogeneous loci associated with differences of allele frequency and regulome tagging between participants of European descent and other ancestry groups from the UK Biobank
Antonella De Lillo, Salvatore D’Antona, Gita A. Pathak, Frank R. Wendt, Flavio De Angelis, Maria Fuciarelli, Renato A Polimanti · 2021 · Human Molecular Genetics
Grab regulates transferrin receptor recycling and iron uptake in developing erythroblasts
Mengying Chen, Yuhan Zhang, Kailun Jiang, Weixi Wang, Feng He, Ru Zhen, Chingyee Moo, Zhuonan Zhang, Jiahai Shi, Caiyong Chen · 2022 · Blood
Genetic Overlap Between Global Cortical Brain Structure, C-Reactive Protein, and White Blood Cell Counts
Nadine Parker, Weiqiu Cheng, Guy Hindley, Kevin Sean O’Connell, Sandeep Karthikeyan, Børge Holen, Alexey A. Shadrin, Zillur Rahman, Naz Karadag, Shahram Bahrami et al. · 2023 · Biological Psychiatry
Interactions between immune cell types facilitate the evolution of immune traits
Tania Dubovik, Martin Lukačišin, Elina Starosvetsky, Benjamin LeRoy, Rachelly Normand, Yasmin Admon, Ayelet Alpert, Yishai Ofran, Max G’Sell, Shai S. Shen-Orr · 2024 · Nature
Mitochondrial genome copy number measured by DNA sequencing in human blood is strongly associated with metabolic traits via cell-type composition differences
Liron Ganel, Lei Chen, Ryan Christ, Jagadish Vangipurapu, Erica P. Young, Indraniel Das, Krishna Kanchi, David E. Larson, Allison Regier, Haley Abel et al. · 2021 · Human Genomics
Transcriptome-Wide Association Study of Blood Cell Traits in African Ancestry and Hispanic/Latino Populations
Jia Wen, Munan Xie, Bryce Rowland, Jonathan D. Rosen, Quan Sun, Jiawen Carmen Chen, Amanda L. Tapia, Huijun Qian, Madeline H. Kowalski, Yue Shan et al. · 2021 · Genes
JointPRS: A data-adaptive framework for multi-population genetic risk prediction incorporating genetic correlation
Leqi Xu, Geyu Zhou, Wei Jiang, Haoyu Zhang, Yikai Dong, Leying Guan, Hongyu Zhao · 2025 · Nature Communications
MagicalRsq: Machine-learning-based genotype imputation quality calibration
Quan Sun, Yingxi Yang, Jonathan D. Rosen, Min-Zhi Jiang, Jiawen Carmen Chen, Weifang Liu, Jia Wen, Laura M. Raffield, Rhonda G. Pace, Yi‐Hui Zhou et al. · 2022 · The American Journal of Human Genetics
Genetically mimicked effects of ASGR1 inhibitors on all-cause mortality and health outcomes: a drug-target Mendelian randomization study and a phenome-wide association study
Guoyi Yang, Catherine Mary Schooling · 2023 · BMC Medicine
Multi-trait GWAS for diverse ancestries: mapping the knowledge gap
Lucie Troubat, Deniz Fettahoglu, Léo Henches, Hugues Aschard, Hanna Julienne · 2024 · BMC Genomics
Whole-genome analysis of plasma fibrinogen reveals population-differentiated genetic regulators with putative liver roles
Jennifer E. Huffman, Jayna C. Nicholas, Julie M. Hahn, Adam S. Heath, Laura M. Raffield, Lisa R. Yanek, Jennifer A. Brody, Florian Thibord, Laura A. Almasy, Traci M. Bartz et al. · 2024 · Blood
Genetic analyses of 104 phenotypes in 20,900 Chinese pregnant women reveal pregnancy-specific discoveries
Xiao Han, Linxuan Li, Meng Yang, Xinyi Zhang, Jieqiong Zhou, Jingyu Zeng, Yan Zhou, Xianmei Lan, Jiuying Liu, Ying H. Lin et al. · 2024 · Cell Genomics
A Chinese host genetic study discovered IFNs and causality of laboratory traits on COVID-19 severity
Huanhuan Zhu, Fang Zheng, Linxuan Li, Yan Jin, Yuxue Luo, Zhen Li, Jingyu Zeng, Ling Fung Paul Tang, Zilong Li, Ningyu Xia et al. · 2021 · iScience
Transcriptome-wide association study in UK Biobank Europeans identifies associations with blood cell traits
Bryce Rowland, Sanan Venkatesh, Manuel Tardáguila, Jia Wen, Jonathan D. Rosen, Amanda L. Tapia, Quan Sun, Mariaelisa Graff, Dragana Vuckovic, Guillaume Lettre et al. · 2022 · Human Molecular Genetics
rs2013278 in the multiple immunological-trait susceptibility locus CD28 regulates the production of non-functional splicing isoforms
Yuki Hitomi, Yoshihiro Aiba, Kazuko Ueno, Nao Nishida, Yosuke Kawai, Minae Kawashima, Makoto Tsuiji, Chisato Iwabuchi, Sanami Takada, Noriko Miyake et al. · 2022 · Human Genomics
Inborn Errors of Immunity Associated With Type 2 Inflammation in the USIDNET Registry
Kelsey L. Smith, Darlene Liying Dai, Bhavi P. Modi, Rahnuma Sara, Elizabeth Garabedian, Rebecca A. Marsh, Jennifer M. Puck, Elizabeth Ann Secord, Kathleen E. Sullivan, Stuart E. Turvey et al. · 2022 · Frontiers in Immunology
Sources of variability in the human platelet transcriptome
Florian Thibord, Andrew D. Johnson · 2023 · Thrombosis Research
Bidirectional two-sample Mendelian randomization study of differential white blood cell counts and schizophrenia
Perry B.M. Leung, Zipeng Liu, Yuanxin Zhong, Justin D. Tubbs, Marta Di Forti, Robin M. Murray, Hon‐Cheong So, Pak Chung Sham, Simon S. Y. Lui · 2024 · Brain Behavior and Immunity
Genetic coupling of enhancer activity and connectivity in gene expression control
Helen F. Ray-Jones, Chak Kei Sung, Lai Ting Chan, Alexander Haglund, Pavel Artemov, Monica Della Rosa, Luminiţa Ruje, Frances Burden, Roman Kreuzhuber, Anna Litovskikh et al. · 2025 · Nature Communications
Improved multiancestry fine-mapping identifies cis-regulatory variants underlying molecular traits and disease risk
Zeyun Lu, Xinran Wang, Matthew Carr, Artem Kim, Steven Gazal, Pejman Mohammadi, Lang Wu, James P. Pirruccello, Linda Kachuri, Alexander Gusev et al. · 2025 · Nature Genetics
Cross-cohort analysis of expression and splicing quantitative trait loci in TOPMed
Peter Orchard, Thomas W. Blackwell, Linda Kachuri, Peter J. Castaldi, Michael H. Cho, Stephanie A. Christenson, Peter Durda, Stacey Gabriel, Craig P. Hersh, Scott Huntsman et al. · 2026 · Science
Sinner or Saint?: Nck Adaptor Proteins in Vascular Biology
Mabruka Alfaidi, Matthew L. Scott, Anthony Wayne Orr · 2021 · Frontiers in Cell and Developmental Biology
Leveraging the local genetic structure for trans-ancestry association mapping
Jiashun Xiao, Mingxuan Cai, Xinyi Yu, Xianghong Hu, Gang Chen, Xiang Wan, Can Yang · 2022 · The American Journal of Human Genetics
Genomic basis of insularity and ecological divergence in barn owls (Tyto alba) of the Canary Islands
Tristan Cumer, Ana Paula Machado, Felipe Sivério, Sidi Imad Cherkaoui, Inês Roque, Rui Lourenço, Motti Charter, Alexandre Roulin, Jérôme Goudet · 2022 · Heredity
Variation and impact of polygenic hematologic traits in monogenic sickle cell disease
Thomas Pincez, Ken Sin Lo, Anne-Laure Pham Hung D'Alexandry D'Orengiani, Melanie E. Garrett, Carlo Brugnara, Allison E. Ashley‐Koch, Marilyn J. Telen, F. Galactéros, Philippe Joly, Pablo Bartolucci et al. · 2022 · Haematologica
Filamin A in platelets: Bridging the (signaling) gap between the plasma membrane and the actin cytoskeleton
Enoli De Silva, Felix Hong, Hervé Falet, Hugh Kim · 2022 · Frontiers in Molecular Biosciences
Power of inclusion: Enhancing polygenic prediction with admixed individuals
Yosuke Tanigawa, M Kellis · 2023 · The American Journal of Human Genetics
Differential white blood cell count and epigenetic clocks: a bidirectional Mendelian randomization study
Manli Sun, Huan Yang, Yang Hu, Jiaqi Fan, Ming-Jing Duan, Jingqi Ruan, Shichang Li, Yang Xu, Yue Han · 2024 · Clinical Epigenetics
Causal associations between circulating immune cells and osteoarthritis: A bidirectional mendelian randomization study
Chenyue Xu, Shengjie Wang, Xiaobo Chen, Tianhang Zhang, Gang Ji, Gang Ji, Fei Wang · 2024 · International Immunopharmacology
In The Blood: Connecting Variant to Function In Human Hematopoiesis
Satish Kumar Nandakumar, Xiaotian Liao, Vijay G. Sankaran · 2020 · Trends in Genetics
Genomic Multiple Sclerosis Risk Variants Modulate the Expression of the ANKRD55–IL6ST Gene Region in Immature Dendritic Cells
Jorge Mena, Iraide Alloza, Raquel Tulloch Navarro, Ane Aldekoa, Javier Díez‐García, Ane Villanueva Etxebarria, Cecilia Lindskog, Alfredo Rodríguez Antigüedad, Sabas Boyero, María del Mar Mendibe Bilbao et al. · 2022 · Frontiers in Immunology
LIPA, a risk locus for coronary artery disease: decoding the variant-to-function relationship
Fang Li, Elise D. Flynn, Philip Ha, Mazal Zebak, Hao-Xiang Cheng, Chen-Yi Xue, Jianting Shi, Xun Wu, Ziyi Wang, Yujiao Meng et al. · 2025 · European Heart Journal
White blood cell count and chronic obstructive pulmonary disease: A Mendelian Randomization study
Zhifa Han, Huiyuan Hu, Peiran B Yang, Baicun Li, Guiyou Liu, Junling Pang, Hongmei Zhao, Jing Wang, Chen Wang · 2022 · Computers in Biology and Medicine
Effects of genetically predicted posttraumatic stress disorder on autoimmune phenotypes
Adam X. Maihofer, Andrew D. Ratanatharathorn, Sian M. J. Hemmings, Karen H. Costenbader, Vasiliki Michopoulos, Renato A Polimanti, Alex O. Rothbaum, Soraya Seedat, Elizabeth A. Mikita, CHARGE Inflammation Working Group et al. · 2024 · Translational Psychiatry
From GWAS variant to function: A study of ∼148,000 variants for blood cell traits
Quan Sun, Cheynna Crowley, Le Huang, Jia Wen, Jiawen Carmen Chen, Erik L. Bao, Paul Livermore Auer, Guillaume Lettre, Alex P. Reiner, Vijay G. Sankaran et al. · 2021 · Human Genetics and Genomics Advances
Identification and functional characterization of a novel susceptibility locus for small vessel vasculitis with MPO-ANCA
Johanna Dahlqvist, Diana Stark Ekman, Bengt Sennblad, Sergey V. Kozyrev, Jessika Nordin, Åsa Karlsson, Jennifer R. S. Meadows, Erik Hellbacher, Solbritt Rantapää‐Dahlqvist, Ewa H. Berglin et al. · 2021 · Lara D. Veeken
Systematic characterization of regulatory variants of blood pressure genes
Winona Oliveros, Kate Delfosse, Daniella F. Lato, Katerina Kiriakopulos, Milad Mokhtaridoost, Abdelrahman Said, Brandon J. McMurray, Jared W. L. Browning, Kaia Mattioli, Guoliang Meng et al. · 2023 · Cell Genomics
Genome-wide census of ATF4 binding sites and functional profiling of trait-associated genetic variants overlapping ATF4 binding motifs
Tiit Örd, Daima Örd, Priit Adler, Tõnis Örd · 2023 · PLoS Genetics
Genetic associations of protein-coding variants in venous thromboembolism
Xiao‐Yu He, Bang‐Sheng Wu, Yang Liu, Canqing Yu, Yue‐Ting Deng, Ze-Yu Li, Chen-Jie Fei, Weishi Liu, Yi‐Jun Ge, Jujiao Kang et al. · 2024 · Nature Communications
Gene-environment interactions in the influence of maternal education on adolescent neurodevelopment using ABCD study
Runye Shi, Xiao Chang, Tobias Banaschewski, Gareth J. Barker, Arun L.W. Bokde, Sylvane Desrivières, Herta Flor, Antoine Grigis, Hugh Garavan, Penny Anne Gowland et al. · 2024 · Science Advances
Integrative analysis of DNA methylation and gene expression identifies genes associated with biological aging in Alzheimer's disease
Bo‐Hyun Kim, A. Vasanthakumar, Qing-Qin S. Li, K. Nudelman, S. Risacher, J. Davis, K. Idler, Jongmin Lee, S. Seo, J. Waring et al. · 2022 · Alzheimer's & Dementia
Targeted screening of genetic associations with COVID-19 susceptibility and severity
Ping Li, Yuehua Ke, Wenlong Shen, Shu Shi, Yahao Wang, Kailin Lin, Xinjie Guo, Changjun Wang, Yan Zhang, Zhihu Zhao · 2022 · Frontiers in Genetics
Multi-trait genetic analysis of asthma and eosinophils uncovers pleiotropic loci in East Asians
Lili Zhi, Qiwen Zheng, Yue Jiang, Lu Yu, Linzehao Li, Yingchao Song, Bichen Peng, Chumeng Zhang, Hengxuan Jiang, Ren Li et al. · 2025 · Nature Communications
The genetics behind inflammasome regulation
Suemy Melim Yamada, Alessandra Pontillo · 2022 · Molecular Immunology
Identification of transcription factors dictating blood cell development using a bidirectional transcription network-based computational framework
Branco M. H. Heuts, Saioa Arza-Apalategi, Siebren Frölich, Saskia M. Bergevoet, S. N. van den Oever, Simon J. van Heeringen, Bert A. van der Reijden, Joost H.A. Martens · 2022 · Scientific Reports
Insight into genetic, biological, and environmental determinants of sexual-dimorphism in type 2 diabetes and glucose-related traits
Amel Lamri, Monica De Paoli, Russell J. de Souza, Geoff H. Werstuck, Sonia Savitri Anand, Marie Pigeyre · 2022 · Frontiers in Cardiovascular Medicine
Evaluating significance of European-associated index SNPs in the East Asian population for 31 complex phenotypes
Jiahao Qiao, Yuxuan Wu, Shuo Zhang, Yue Xu, Jinhui Zhang, Ping Zeng, Ting Wang · 2023 · BMC Genomics
DNA Methylation as the Link between Migration and the Major Noncommunicable Diseases: the RODAM Study
Felix Patience Chilunga, Peter Henneman, Andrea Venema, Karlijn A. C. Meeks, Juan R. González, Carlos Ruiz-Arenas, Ana Requena‐Méndez, Erik Beune, Joachim Spranger, Liam L Smeeth et al. · 2021 · Epigenomics
Identification of novel genes influencing eosinophil-specific protein levels in asthma families
Raphaël Vernet, Régis Matran, Farid Zerimech, Anne‐Marie Madore, Marie‐Ève Lavoie, Pierre‐Alexandre Gagnon, Hamida Mohamdi, Patricia Margaritte‐Jeannin, Valérie Siroux, Marie‐Hélène Dizier et al. · 2022 · Journal of Allergy and Clinical Immunology
Identification and single-base gene-editing functional validation of a cis-EPO variant as a genetic predictor for EPO-increasing therapies
Harlow, Charli E., Gandawijaya, Josan, Bamford, Rosemary A., Martin, Emily-Rose, Wood, Andrew R., van der Most, Peter J., Tanaka, Toshiko, Leonard, Hampton L., Etheridge, Amy S., Innocenti, Federico et al. · 2022 · The American Journal of Human Genetics
Estimating colocalization probability from limited summary statistics
Emily A. King, Fengjiao Dunbar, J. Wade Davis, Jacob F. Degner · 2021 · BMC Bioinformatics
Trans-ancestry genome-wide association study identifies novel genetic mechanisms in rheumatoid arthritis
Kazuyoshi Ishigaki, Saori Sakaue, Chikashi C. Terao, Yang Luo, Kyuto Sonehara, Kensuke Yamaguchi, Tiffany Amariuta, Chun Lai Too, Vincent A. Laufer, Ian C. Scott et al. · 2021 · medRxiv
The genetic determinants of recurrent somatic mutations in 43,693 blood genomes
J. Weinstock, C. Laurie, J. Broome, K. Taylor, Xiu-Qing Guo, A. Shuldiner, J. O'Connell, J. Lewis, E. Boerwinkle, K. Barnes et al. · 2023 · Science Advances
The genetic and phenotypic correlates of mtDNA copy number in a multi-ancestry cohort
Arslan A. Zaidi, Anurag Verma, Colleen Morse, Penn Medicine BioBank, Marylyn DeRiggi Ritchie, Iain Mathieson · 2023 · Human Genetics and Genomics Advances
Gene expression and splicing QTL analysis of blood cells in African American participants from the Jackson Heart Study
Jia Wen, Quan Sun, Le Huang, Lingbo Zhou, Margaret F. Doyle, Lynette Ekunwe, Peter Durda, Nels C. Olson, Alex P. Reiner, Yun Li et al. · 2024 · Genetics
Polygenic Scores of Cardiometabolic Risk Factors in American Indian Adults
Quan Sun, Jiawen Du, Yihan Tang, Lyle G. Best, Karin Haack, Ying Zhang, Shelley A. Cole, Nora Franceschini · 2025 · JAMA Network Open
Genetically Determined Circulating Levels of Cytokines and the Risk of Rheumatoid Arthritis
Yu Qian, Zhixing He, Sizheng Steven Zhao, Bin Liu, Ying Chen, Xiaohui Sun, Ding Ye, Xia Jiang, Hui Zheng, Chengping Wen et al. · 2022 · Frontiers in Genetics
Human Leukocyte Antigen Signatures as Pathophysiological Discriminants of Microscopic Colitis Subtypes
Tenghao Zheng, Giulia Roda, Yamile Zabana, Celia Escudero‐Hernández, Xingrong Liu, Ye Chen, Letícia Camargo Tavares, Ferdinando Bonfiglio, Marie-Rose Mellander, Izabella Janczewska et al. · 2023 · Journal of Crohn s and Colitis