Association of human height-related genetic variants with familial short stature in Han Chinese in Taiwan

Ying Ju Lin, Wen Ling Liao, Chung Hsing Wang, Li Ping Tsai, Chih Hsin Tang, Chien Hsiun Chen, Jer Yuarn Wu, Wen Miin Liang, Ai Ru Hsieh, Chi Fung Cheng, Jin Hua Chen, Wen Kuei Chien, Ting Hsu Lin, Chia Ming Wu, Chiu Chu Liao, Shao Mei Huang, Fuu Jen Tsai

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18 引文 斯高帕斯(Scopus)


Human height can be described as a classical and inherited trait model. Genome-wide association studies (GWAS) have revealed susceptible loci and provided insights into the polygenic nature of human height. Familial short stature (FSS) represents a suitable trait for investigating short stature genetics because disease associations with short stature have been ruled out in this case. In addition, FSS is caused only by genetically inherited factors. In this study, we explored the correlations of FSS risk with the genetic loci associated with human height in previous GWAS, alone and cumulatively. We systematically evaluated 34 known human height single nucleotide polymorphisms (SNPs) in relation to FSS in the additive model (p < 0.00005). A cumulative effect was observed: the odds ratios gradually increased with increasing genetic risk score quartiles (p < 0.001; Cochran-Armitage trend test). Six affected genes - ZBTB38, ZNF638, LCORL, CABLES1, CDK10, and TSEN15 - are located in the nucleus and have been implicated in embryonic, organismal, and tissue development. In conclusion, our study suggests that 13 human height GWAS-identified SNPs are associated with FSS risk both alone and cumulatively.

期刊Scientific Reports
出版狀態已發佈 - 12月 1 2017

ASJC Scopus subject areas

  • 多學科


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