ArticleCell2022
Limb development genes underlie variation in human fingerprint patterns.
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Article in Cell, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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27citing papers in PubMed
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Who cites it
27 citing papers in PubMed, 65 citations in OpenAlex.
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- Expert Consensus on Big Data Collection of Skin and Appendage Disease Phenotypes in Chinese.Phenomics (Cham, Switzerland) · 2024Review
- Report on the 4th Board Meeting of the International Human Phenome Consortium.Phenomics (Cham, Switzerland) · 2024Article
- Innovative Solutions for Worn Fingerprints: A Comparative Analysis of Traditional Fingerprint Impression and 3D Printing.Sensors (Basel, Switzerland) · 2024Article
- Periodic pattern formation during embryonic development.Biochemical Society transactions · 2024Review
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- Three-dimensional molecular architecture of mouse organogenesis.Nature communications · 2023Article
- A Review of Fingerprint Sensors: Mechanism, Characteristics, and Applications.Micromachines · 2023Review
- Phenomic Studies on Diseases: Potential and Challenges.Phenomics (Cham, Switzerland) · 2023Review
- Lateral thinking in syndromic congenital cardiovascular disease.Disease models & mechanisms · 2023Article
Corrections and comments
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Authors and funding
46 authors at 15 institutions in 5 countries.
Jinxi LiState Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, and Human Phenome Institute, Fudan University, Shanghai 200438, PRC; CAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai 200031, PRC.
James D GloverThe Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Edinburgh, UK.
Haiguo ZhangMinistry of Education Key Laboratory of Contemporary Anthropology, Department of Anthropology and Human Genetics, School of Life Sciences, Fudan University, Shanghai 200438, PRC.
Meifang PengCAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai 200031, PRC; Ministry of Education Key Laboratory of Contemporary Anthropology, Department of Anthropology and Human Genetics, School of Life Sciences, Fudan University, Shanghai 200438, PRC.
Jingze TanMinistry of Education Key Laboratory of Contemporary Anthropology, Department of Anthropology and Human Genetics, School of Life Sciences, Fudan University, Shanghai 200438, PRC.
Chandana Basu MallickThe Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Edinburgh, UK; Centre for Genetic Disorders, Institute of Science, Banaras Hindu University, Varanasi, Uttar Pradesh, India.
Dan HouChinese Academy of Sciences Key Laboratory of Tissue Microenvironment and Tumor, Shanghai Institute of Nutrition and Health, Shanghai Institutes for Biological Sciences, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai 200031, PRC.
Yajun YangMinistry of Education Key Laboratory of Contemporary Anthropology, Department of Anthropology and Human Genetics, School of Life Sciences, Fudan University, Shanghai 200438, PRC.
Sijie WuState Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, and Human Phenome Institute, Fudan University, Shanghai 200438, PRC; CAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai 200031, PRC.
Yu LiuCAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai 200031, PRC.
Qianqian PengCAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai 200031, PRC.
Shijie C ZhengCAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai 200031, PRC.
Edie I CrosseCentre for Regenerative Medicine, University of Edinburgh, Edinburgh, UK.
Alexander MedvinskyCentre for Regenerative Medicine, University of Edinburgh, Edinburgh, UK.
Richard A AndersonMRC Centre for Reproductive Health, Queens Medical Research Institute, University of Edinburgh, Edinburgh, UK.
Helen BrownThe Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Edinburgh, UK.
Ziyu YuanFudan-Taizhou Institute of Health Sciences, Taizhou, Jiangsu 225326, PRC.
Shen ZhouShanghai Foreign Language School, Shanghai 200083, PRC.
Yanqing XuForest Ridge School of the Sacred Heart, Bellevue, WA 98006, USA.
John P KempUniversity of Queensland Diamantina Institute, University of Queensland, Brisbane, QLD, Australia.
Yvonne Y W HoQIMR Berghofer Medical Rese Institute, Brisbane, QLD, Australia.
Danuta Z LoeschPsychology Department, La Trobe University, Melbourne, VIC, Australia.
Lizhong WangWeGene, Shenzhen, Guangdong 518040, PRC.
Yingxiang LiWeGene, Shenzhen, Guangdong 518040, PRC.
Senwei TangWeGene, Shenzhen, Guangdong 518040, PRC.
Xiaoli WuWeGene, Shenzhen, Guangdong 518040, PRC.
Robin G WaltersClinical Trial Service Unit and Epidemiological Studies Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, UK; Medical Research Council Population Health Research Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, UK.
Kuang LinClinical Trial Service Unit and Epidemiological Studies Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, UK.
Ruogu MengCenter for Data Science in Health and Medicine, Peking University, Beijing 100191, PRC.
Jun LvDepartment of Epidemiology and Biostatistics, School of Public Health, Peking University Health Science Center, Beijing 100191, PRC.
Jonathan M ChernusDepartment of Human Genetics, University of Pittsburgh, Pittsburgh, PA 15261, USA.
Katherine NeiswangerCenter for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, PA 15219, USA.
Eleanor FeingoldDepartment of Human Genetics, University of Pittsburgh, Pittsburgh, PA 15261, USA.
David M EvansUniversity of Queensland Diamantina Institute, University of Queensland, Brisbane, QLD, Australia; Institute for Molecular Bioscience, University of Queensland, Brisbane, QLD, Australia; MRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.
Sarah E MedlandQIMR Berghofer Medical Rese Institute, Brisbane, QLD, Australia.
Nicholas G MartinQIMR Berghofer Medical Rese Institute, Brisbane, QLD, Australia.
Seth M WeinbergDepartment of Human Genetics, University of Pittsburgh, Pittsburgh, PA 15261, USA; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, PA 15219, USA; Department of Anthropology, University of Pittsburgh, Pittsburgh, PA 15260, USA.
Mary L MarazitaDepartment of Human Genetics, University of Pittsburgh, Pittsburgh, PA 15261, USA; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, PA 15219, USA; Clinical and Translational Science, University of Pittsburgh, Pittsburgh, PA 15261, USA; Department of Psychiatry, University of Pittsburgh, Pittsburgh, PA 15261, USA.
Gang ChenWeGene, Shenzhen, Guangdong 518040, PRC.
Zhengming ChenClinical Trial Service Unit and Epidemiological Studies Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, UK; Medical Research Council Population Health Research Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, UK.
Yong ZhouClinical Research Institute, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, PRC.
Michael CheesemanThe Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Edinburgh, UK.
Lan WangChinese Academy of Sciences Key Laboratory of Tissue Microenvironment and Tumor, Shanghai Institute of Nutrition and Health, Shanghai Institutes for Biological Sciences, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai 200031, PRC.
Li JinState Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, and Human Phenome Institute, Fudan University, Shanghai 200438, PRC; CAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai 200031, PRC; Research Unit of Dissecting the Population Genetics and Developing New Technologies for Treatment and Prevention of Skin Phenotypes and Dermatological Diseases (2019RU058), Chinese Academy of Medical Sciences, Shanghai 200438, PRC. Electronic address: lijin@fudan.edu.cn.
Denis J HeadonThe Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Edinburgh, UK. Electronic address: denis.headon@roslin.ed.ac.uk.
Sijia WangCAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai 200031, PRC; Center for Excellence in Animal Evolution and Genetics, Chinese Academy of Sciences, Kunming 650223, PRC. Electronic address: wangsijia@picb.ac.cn.
Shanghai Institute of Nutrition and Health · CNRoslin Institute · GBUniversity of Pittsburgh · USFudan University · CNQIMR Berghofer Medical Research Institute · AUUniversity of Oxford · GBMRC Centre for Regenerative Medicine · GBPeking University · CNThe University of Queensland · AUChinese Academy of Medical Sciences & Peking Union Medical College · CNLa Trobe University · AUMRC Centre for Reproductive Health · GBNanjing Foreign Language School · CNSacred Heart Seminary and School of Theology · USShanghai Jiao Tong University · CN
Funding
Extending the Phenotype of Nonsyndromic Orofacial CleftsR01DE016148 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI MARAZITA, MARY L., WEINBERG, SETH M · 2004 to 2018
$19.7MPlanning International Orofacial Cleft Genetic StudiesR21DE016930 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI MARAZITA, MARY L · 2006 to 2007
$293kBiotechnology and Biological Sciences Research Council BBS/E/D/10002071Biotechnology and Biological Sciences Research Council BB/T007788/1British Heart FoundationMedical Research Council G1100357Medical Research Council MC-PC-13049Medical Research Council MC_PC_13049Medical Research Council MC-PC-14135Medical Research Council MC_PC_14135Medical Research Council MC_U137686851Medical Research Council MC_UU_00017/1Medical Research Council MC_UU_12013/3Medical Research Council MC_UU_12013/4Medical Research Council MC_UU_12026/2Medical Research Council MR/N022556/1NIDCR NIH HHS R01 DE016148NIDCR NIH HHS R21 DE016930Wellcome Trust 088158/Z/09/ZWellcome Trust 102215/2/13/2Wellcome Trust 104085/Z/14/ZWellcome Trust 202922/Z/16/ZWellcome Trust 212946/Z/18/Z
Abstract
Fingerprints are of long-standing practical and cultural interest, but little is known about the mechanisms that underlie their variation. Using genome-wide scans in Han Chinese cohorts, we identified 18 loci associated with fingerprint type across the digits, including a genetic basis for the long-recognized "pattern-block" correlations among the middle three digits. In particular, we identified a variant near EVI1 that alters regulatory activity and established a role for EVI1 in dermatoglyph patterning in mice. Dynamic EVI1 expression during human development supports its role in shaping the limbs and digits, rather than influencing skin patterning directly. Trans-ethnic meta-analysis identified 43 fingerprint-associated loci, with nearby genes being strongly enriched for general limb development pathways. We also found that fingerprint patterns were genetically correlated with hand proportions. Taken together, these findings support the key role of limb development genes in influencing the outcome of fingerprint patterning.
Indexed as
DermatoglyphicsPolymorphism, Single NucleotideAdolescentAdultAgedAged, 80 and overAnimalsAsian PeopleBody PatterningChildCohort StudiesFemaleFingersForelimbGenetic LociGenome-Wide Association StudyMDS1 and EVI1 Complex Locus ProteinMECOM protein, humanMecom protein, mouseEVI1fingerprint patterngeneticsgenome-wide association studylimb developmenttrans-ethnic meta-analysis
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