A genome wide association study between copy number variation (CNV) and human height in Chinese population  

作　　者：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 

机构地区：[1]Laboratory of Molecular and Statistical Genetics, College of Life Sciences, Hunan Normal University, Changsha 410081, China [2]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 [3]National Engineering Research Center for Beijing Biochip Technology, Beijing 102206, China [4]Department of Basic Medical Science and Orthopedic Surgery, School of Medicine, University of Missouri - Kansas City, Kansas City, MO 64108, USA [5]College of Life Sciences and Bioengineering, Beijing Jiaotong University, Beijing 100044, China

出　　处：《Journal of Genetics and Genomics》2010年第12期779-785,共7页遗传学报（英文版）

基　　金：supported by Natural Science Foundation of China (Nos. 30600364, 30771222, and 30900810);NSFC-Canadian Institutes of Health Research(CIHR) Joint Health Research Initiative Proposal (No.30811120436);NSFC/RGC Joint Research Scheme (No.30731160618);Shanghai Leading Academic Discipline Project (No. S30501);startup fund from Shanghai University of Science and Technology;supported by grants from NIH (Nos. P50AR055081,R01AG026564, R01AR050496, RC2DE020756,R01AR057049, and R03TW008221)

摘　　要：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 rear- rangements 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.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 rear- rangements 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.

关 键 词：CNV human height GWAS Affymetrix 500K array 

分 类 号：Q78[生物学—分子生物学] X24[环境科学与工程—环境科学]