A genome-wide association study of facial morphology identifies novel genetic loci in Han Chinese |
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| Authors: | Yin Huang Dan Li Lu Qiao Yu Liu Qianqian Peng Sijie Wu Manfei Zhang Yajun Yang Jingze Tan Shuhua Xu Li Jin Sijia Wang Kun Tang Stefan Grünewald |
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| Institution: | 1. Chinese Academy of Sciences Key Laboratory of Computational Biology, CAS-MPG Partner Institute for Computational Biology, Shanghai Institute of Nutrition and Health, Shanghai Institutes for Biological Sciences, University of Chinese Academy of Sciences, CAS, Shanghai 200031, China;2. DeepBlue Technology (Shanghai) Co., Ltd, Shanghai 200336, China;3. State Key Laboratory of Genetic Engineering and Ministry of Education Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai 200433, China;4. Fudan-Taizhou Institute of Health Sciences, Taizhou 225300, China;5. Collaborative Innovation Center of Genetics and Development, Shanghai 200438, China;6. Center for Excellence in Animal Evolution and Genetics, Chinese Academy of Sciences, Kunming, Yunnan 650223, China;7. School of Life Science and Technology, ShanghaiTech University, Shanghai 201210, China;1. Department of Rehabilitation Medicine, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou 310000, China;2. Center for Plant Biology, School of Life Sciences, Tsinghua University, Beijing 100084, China;3. Tsinghua-Peking Center for Life Sciences, Beijing 100084, China;4. National Institute of Biological Sciences, Zhongguancun Life Science Park, Beijing 102206, China;1. Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium;2. Department of Biomolecular Medicine, Ghent University, Ghent, Belgium;1. Eye Center of the Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310009, China;2. The Institute of Translational Medicine, Zhejiang University, Hangzhou 310058, China;3. Department of Cardiology, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310009, China;4. Department of Integrated Biosciences, Graduate School of Frontier Sciences, University of Tokyo, Kashiwa, Chiba 277-8562, Japan;5. Zhejiang Provincial Key Lab of Ophthalmology, Hangzhou 310058, China;6. MOE Laboratory of Biosystems Homeostasis & Protection and Innovation Center for Cell Signaling Network, Life Sciences Institute, Zhejiang University, Hangzhou 310058, China |
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| Abstract: | The human face is a heritable surface with many complex sensory organs. In recent years, many genetic loci associated with facial features have been reported in different populations, yet there is a lack of studies on the Han Chinese population. Here, we report a genome-wide association study of 3 D normal human faces of 2,659 Han Chinese with autosegment phenotypes of facial morphology. We identify singlenucleotide polymorphisms(SNPs) encompassing four genomic regions showing significant associations with different facial regions, including SNPs in DENND1 B associated with the chin, SNPs among PISRT1 associated with eyes, SNPs between DCHS2 and SFRP2 associated with the nose, and SNPs in VPS13 B associated with the nose. We replicate 24 SNPs from previously reported genetic loci in different populations, whose candidate genes are DCHS2, SUPT3 H, HOXD1, SOX9, PAX3, and EDAR. These results provide a more comprehensive understanding of the genetic basis of variation in human facial morphology. |
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| Keywords: | Genome-wide association study Facial morphology Automatic phenotyping Visualization |
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