单位：[1]Institute and Department of Dermatology, The First Affiliated Hospital, Anhui Medical University, Hefei 230032, China[2]The Key Laboratory of Dermatology, Ministry of Education, Anhui Medical University, Hefei 230032, China[3]Collaborative Innovation Center for Complex and Severe Dermatosis, Anhui Medical University, Hefei 230032, China[4]Department of Dermatology, The Second Affiliated Hospital, Anhui Medical University, Hefei 230601, China[5]Department of Biochemistry, University of New Mexico, Albuquerque, NM 87131, USA[6]Department of Genetics, Renaissance Computing Institute, University of North Carolina at Chapel Hill, Chapel Hill, NC 27517, USA[7]Department of Dermatology, China-Japan Friendship Hospital, Beijing 100029, China
Human height is a highly heritable trait in which multiple genes are involved. Recent genome-wide association studies (GWASs) have identified that COL11A1 is an important susceptibility gene for human height. To determine whether the variants of COL11A1 are associated with adult and children height, we analyzed splicing and coding single-nucleotide variants across COL11A1 through exome-targeted sequencing and two validation stages with a total 20,426 Chinese Han samples. A total of 105 variants were identified by exome-targeted sequencing, of which 30 SNPs were located in coding region. The strongest association signal was chr1_103380393 with P value of 4.8 x 10(-7). Chr1_103380393 also showed nominal significance in the validation stage (P = 1.21 x 10(-6)). Combined analysis of 16,738 samples strengthened the original association of chr1_103380393 with adult height (P-combined = 3.1 x 10(-8)), with an increased height of 0.292sd (standard deviation) per G allele (95% CI: 0.19-0.40). There was no evidence (P = 0.843) showing that chr1_103380393 altered child height in 3688 child samples. Only the group of 12-15 years showed slight significance with P value of 0.0258. This study firstly shows that genetic variants of COL11A1 contribute to adult height in Chinese Han population but not to children height, which expand our knowledge of the genetic factors underlying height variation and the biological regulation of human height. Copyright (C) 2016, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, and Genetics Society of China. Published by Elsevier Limited and Science Press. All rights reserved.
基金：
Youth National Science Foundation of China [31100908]
第一作者单位：[1]Institute and Department of Dermatology, The First Affiliated Hospital, Anhui Medical University, Hefei 230032, China[2]The Key Laboratory of Dermatology, Ministry of Education, Anhui Medical University, Hefei 230032, China[3]Collaborative Innovation Center for Complex and Severe Dermatosis, Anhui Medical University, Hefei 230032, China
共同第一作者：
通讯作者：
通讯机构：[1]Institute and Department of Dermatology, The First Affiliated Hospital, Anhui Medical University, Hefei 230032, China[2]The Key Laboratory of Dermatology, Ministry of Education, Anhui Medical University, Hefei 230032, China[3]Collaborative Innovation Center for Complex and Severe Dermatosis, Anhui Medical University, Hefei 230032, China[4]Department of Dermatology, The Second Affiliated Hospital, Anhui Medical University, Hefei 230601, China
推荐引用方式(GB/T 7714)：
Shen Changbing,Zheng Xiaodong,Gao Jing,et al.A rare variant in COL11A1 is strongly associated with adult height in Chinese Han population[J].JOURNAL of GENETICS and GENOMICS.2016,43(9):549-554.doi:10.1016/j.jgg.2016.04.002.
APA：
Shen, Changbing,Zheng, Xiaodong,Gao, Jing,Zhu, Caihong,Ko, Randy...&Zhou, Fusheng.(2016).A rare variant in COL11A1 is strongly associated with adult height in Chinese Han population.JOURNAL of GENETICS and GENOMICS,43,(9)
MLA：
Shen, Changbing,et al."A rare variant in COL11A1 is strongly associated with adult height in Chinese Han population".JOURNAL of GENETICS and GENOMICS 43..9(2016):549-554
生物学