| A genome wide association study between copy number variation （CNV） and human height in Chinese population |
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| 作者姓名： | Xi Li Lijun Tan Xiaogang Liu Shufeng Lei Tielin Yang Xiangding Chen Fang Zhang Yue Fang Yan Guo Liang Zhang Han Yan Feng Pan Zhixin Zhang Yumei Peng Qi Zhou Lina He Xuezhen Zhu Jing Cheng Lishu Zhang Yaozhong Liu Qing Tian Hongwen Deng |
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| 作者单位： | Xi Li,Lijun Tan,Xiangding Chen,Fang Zhang(Laboratory of Molecular and Statistical Genetics, College of Life Sciences, Hunan Normal University, Changsha 410081, China);Xiaogang Liu(The Key Laboratory of Biomedical Information Engineering of Ministry of Education and Institute of Molecular Genetics, School of Life Science and Technology, Xi'an Jiaotong University, Xi'an 710049, China;Department of Basic Medical Science and Orthopedic Surgery, School of Medicine, University of Missouri - Kansas City, Kansas City,MO 64108, USA);Shufeng Lei(Laboratory of Molecular and Statistical Genetics, College of Life Sciences, Hunan Normal University, Changsha 410081, China;Department of Basic Medical Science and Orthopedic Surgery, School of Medicine, University of Missouri - Kansas City, Kansas City,MO 64108, USA);Tielin Yang,Yan Guo,Han Yan,Feng Pan,Zhixin Zhang,Yumei Peng,Qi Zhou,Lina He,Xuezhen Zhu(The Key Laboratory of Biomedical Information Engineering of Ministry of Education and Institute of Molecular Genetics, School of Life Science and Technology, Xi'an Jiaotong University, Xi'an 710049, China);Yue Fang,Yaozhong Liu,Qing Tian(Department of Basic Medical Science and Orthopedic Surgery, School of Medicine, University of Missouri - Kansas City, Kansas City,MO 64108, USA);Liang Zhang,Jing Cheng(National Engineering Research Center for Beijing Biochip Technology, Beijing 102206, China);Lishu Zhang(College of Life Sciences and Bioengineering, Beijing Jiaotong University, Beijing 100044, China);Hongwen Deng(Laboratory of Molecular and Statistical Genetics, College of Life Sciences, Hunan Normal University, Changsha 410081, China;Department of Basic Medical Science and Orthopedic Surgery, School of Medicine, University of Missouri - Kansas City, Kansas City,MO 64108, USA;College of Life Sciences and Bioengineering, Beijing Jiaotong University, Beijing 100044, China) |
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| 基金项目： | The study was partially supported by Natural Science Foundation of China，NSFC-Canadian Institutes of Health Research (CIHR) Joint Health Research Initiative Proposal，NSFC/RGC Joint Research Scheme，Shanghai Leading Academic Discipline Project，startup fund from Shanghai University of Science and Technology，HWD was partially supported by grants from NIH，Franklin D.Dickson/Missouri Endowment |
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| 摘 要： |
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| 关 键 词： | 遗传变异 全基因组 拷贝数 人类 关联性 人口 华人 表型变异 |
| 收稿时间： | 7 May 2010 |
A genome wide association study between copy number variation (CNV) and human height in Chinese population |
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| Xi Li,Lijun Tan,Xiaogang Liu,Shufeng Lei,Tielin Yang,Xiangding Chen,Fang Zhang,Yue Fang,Yan Guo,Liang Zhang,Han Yan,Feng Pan,Zhixin Zhang,Yumei Peng,Qi Zhou,Lina He,Xuezhen Zhu,Jing Cheng,Lishu Zhang,Yaozhong Liu,Qing Tian,Hongwen Deng.A genome wide association study between copy number variation (CNV) and human height in Chinese population[J].Journal of Genetics and Genomics,2010,37(12):779-785. |
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| Authors: | Xi Li Lijun Tan Xiaogang Liu Shufeng Lei Tielin Yang Xiangding Chen Fang Zhang Yue Fang Yan Guo Liang Zhang Han Yan Feng Pan Zhixin Zhang Yumei Peng Qi Zhou Lina He Xuezhen Zhu Jing Cheng Lishu Zhang Yaozhong Liu Qing Tian Hongwen Deng |
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| Institution: | 1. I Department of Otolaryngology and Laryngological Oncology, Medical University of ?ód?, Kopcinskiego 22, 90-153 ?ód?, Poland;2. Department of Cytobiochemistry, University of ?ód?, Pomorska 142/143, 90-236 ?ód?, Poland;3. II Department of Otolaryngology and Laryngological Oncology, Medical University of ?ód?, ?eromskiego 113, 90-549 ?ód?, Poland;4. Department of Head and Neck Surgery, Medical University of ?ód?, Paderewskiego 4, 93-509 ?ód?, Poland;5. Department of Otolaryngology and Laryngological Oncology, Medical University of Lublin, Jaczewskiego 8, 20-954 Lublin, Poland;6. Department of Pathology, Medical University of ?ód?, Pomorska 251, 92-213 ?ód?, Poland;1. Department of Human Genetics, Emory University, Atlanta, Georgia, USA;2. Department of Epidemiology, Rollins School of Public Health, Emory University, Atlanta, Georgia, USA;3. Graduate Division of Biological and Biomedical Sciences, Genetics and Molecular Biology Graduate Program, Laney Graduate School, Emory University, Atlanta, Georgia, USA;4. Department of Pediatrics, Sibley Heart Center Cardiology, Children’s Hospital of Atlanta, Emory University, Atlanta, Georgia, USA;5. Heart Center, Nationwide Children’s Hospital, Columbus, Ohio, USA;6. Down Syndrome Clinic and Research Center, Kennedy Krieger Institute, Baltimore, Maryland, USA;7. Department of Physiology and McKusick Nathans Institute for Genetic Medicine, School of Medicine, Johns Hopkins University, Baltimore, Maryland, USA;8. Knight Cardiovascular Institute, and Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon, USA;9. Center for Statistical Genetics and Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, Michigan, USA |
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| Abstract: | Copy number variation (CNV) is a type of genetic variation which may have important roles in phenotypic variability and disease susceptibility. To hunt for genetic variants underlying human height variation, we performed a genome wide CNV association study for human height in 618 Chinese unrelated subjects using Affymetrix 500K array set. After adjusting for age and sex, we found that four CNVs at 6p21.3, 8p23.3-23.2, 9p23 and 16p12.1 were associated with human height (with borderline significant p value: 0.013, 0.011, 0.024, 0.049; respectively). However, after multiple tests correction, none of them was associated with human height. We observed that the gain of copy number (more than 2 copies) at 8p23.3-23.2 was associated with lower height (normal copy number vs. gain of copy number; 161.2 cm vs. 153.7 cm, p = 0.011), which accounted for 0.9% of height variation. Loss of copy number (less than 2 copies) at 6p21.3 was associated with 0.8% lower height (loss of copy number vs. normal copy number: 154.5 cm vs. 161.1 cm, p = 0.013). Since no important genes influencing height located in CNVs at loci of 8p23.3-23.2 and 6p21.3, the two CNVs may cause the structural rearrangements of neighbored important candidate genes, thus regulates the variation of height. Our results expand our knowledge of the genetic factors underlying height variation and the biological regulation of human height. |
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| Keywords: | CNV human height GWAS Affymetrix 500K array |
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