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

doi:10.1038/s41598-017-06766-z

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 Citations (Scopus)

Abstract

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.

Original language	English
Article number	6372
Journal	Scientific Reports
Volume	7
Issue number	1
DOIs	https://doi.org/10.1038/s41598-017-06766-z
Publication status	Published - Dec 1 2017

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Lin, Y. J., Liao, W. L., Wang, C. H., Tsai, L. P., Tang, C. H., Chen, C. H., Wu, J. Y., Liang, W. M., Hsieh, A. R., Cheng, C. F., Chen, J. H., Chien, W. K., Lin, T. H., Wu, C. M., Liao, C. C., Huang, S. M., & Tsai, F. J. (2017). Association of human height-related genetic variants with familial short stature in Han Chinese in Taiwan. Scientific Reports, 7(1), Article 6372. https://doi.org/10.1038/s41598-017-06766-z

@article{b9ad849ed6224861b092d2500ca46b07,

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

abstract = "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.",

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

note = "Funding Information: This study was supported by grants from the China Medical University (CMU102-PH-01), the China Medical University Hospital (DMR-105-031 and DMR-105-098), the National Science Council, the Ministry of Science and Technology, Taiwan (NSC 102-2314-B-039-011-MY3, MOST 103-2320-B-039-006-MY3, and MOST 105-2314-B-039-037-MY3), and China Medical University under the Aim for Top University Plan of the Ministry of Education, Taiwan. We thank the National Center for Genome Medicine of the National Core Facility Program for Biotechnology, Ministry of Science and Technology, for technical and bioinformatics support. We also thank Drs. Kuan-Teh Jeang and Willy W.L. Hong for technical help and suggestions. Publisher Copyright: {\textcopyright} 2017 The Author(s).",

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doi = "10.1038/s41598-017-06766-z",

language = "English",

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T1 - Association of human height-related genetic variants with familial short stature in Han Chinese in Taiwan

AU - Lin, Ying Ju

AU - Liao, Wen Ling

AU - Wang, Chung Hsing

AU - Tsai, Li Ping

AU - Tang, Chih Hsin

AU - Chen, Chien Hsiun

AU - Wu, Jer Yuarn

AU - Liang, Wen Miin

AU - Hsieh, Ai Ru

AU - Cheng, Chi Fung

AU - Chen, Jin Hua

AU - Chien, Wen Kuei

AU - Lin, Ting Hsu

AU - Wu, Chia Ming

AU - Liao, Chiu Chu

AU - Huang, Shao Mei

AU - Tsai, Fuu Jen

N1 - Funding Information: This study was supported by grants from the China Medical University (CMU102-PH-01), the China Medical University Hospital (DMR-105-031 and DMR-105-098), the National Science Council, the Ministry of Science and Technology, Taiwan (NSC 102-2314-B-039-011-MY3, MOST 103-2320-B-039-006-MY3, and MOST 105-2314-B-039-037-MY3), and China Medical University under the Aim for Top University Plan of the Ministry of Education, Taiwan. We thank the National Center for Genome Medicine of the National Core Facility Program for Biotechnology, Ministry of Science and Technology, for technical and bioinformatics support. We also thank Drs. Kuan-Teh Jeang and Willy W.L. Hong for technical help and suggestions. Publisher Copyright: © 2017 The Author(s).

PY - 2017/12/1

Y1 - 2017/12/1

N2 - 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.

AB - 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.

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

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