A rare variant in COL11A1 is strongly associated with adult height in Chinese Han population

Publication date: Available online 4 April 2016
Source:Journal of Genetics and Genomics
Author(s): Changbing Shen, Xiaodong Zheng, Jing Gao, Caihong Zhu, Randy Ko, Xianfa Tang, Chao Yang, Jinfa Dou, Yan Lin, Yuyan Cheng, Lu Liu, Shuangjun Xu, Gang Chen, Xianbo Zuo, Xianyong Yin, Liangdan Sun, Yong Cui, Sen Yang, Xuejun Zhang, Fusheng Zhou
Human height is a highly heritable trait in which multiple genes are involved. Recent genome-wide association studies have identified that COL11A1 is an important susceptibility gene for human height. To determine whether the variants of COL11A1 associate with adult and children height, we analyzed splicing and coding single-nucleotide variants across COL11A1 through exome-targeted sequencing and follow-up validation in 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 between and height was 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 associations of chr1_103380393 with adult height (Pcombined = 3.1 x 10^-8), with an increased height of 0.292se per G allele (95% CI: 0.19-0.40). There was no evidences (P = 0.843) showing that chr1_103380393 altered child height in 3,688 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.



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