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 sta...

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Autores principales:	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
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/78bc59b5d1f841d4ba370237da413dde
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spelling	oai:doaj.org-article:78bc59b5d1f841d4ba370237da413dde2021-12-02T12:32:31ZAssociation of human height-related genetic variants with familial short stature in Han Chinese in Taiwan10.1038/s41598-017-06766-z2045-2322https://doaj.org/article/78bc59b5d1f841d4ba370237da413dde2017-07-01T00:00:00Zhttps://doi.org/10.1038/s41598-017-06766-zhttps://doaj.org/toc/2045-2322Abstract 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.Ying-Ju LinWen-Ling LiaoChung-Hsing WangLi-Ping TsaiChih-Hsin TangChien-Hsiun ChenJer-Yuarn WuWen-Miin LiangAi-Ru HsiehChi-Fung ChengJin-Hua ChenWen-Kuei ChienTing-Hsu LinChia-Ming WuChiu-Chu LiaoShao-Mei HuangFuu-Jen TsaiNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 7, Iss 1, Pp 1-7 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q 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 Association of human height-related genetic variants with familial short stature in Han Chinese in Taiwan
description	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.
format	article
author	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
author_facet	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
author_sort	Ying-Ju Lin
title	Association of human height-related genetic variants with familial short stature in Han Chinese in Taiwan
title_short	Association of human height-related genetic variants with familial short stature in Han Chinese in Taiwan
title_full	Association of human height-related genetic variants with familial short stature in Han Chinese in Taiwan
title_fullStr	Association of human height-related genetic variants with familial short stature in Han Chinese in Taiwan
title_full_unstemmed	Association of human height-related genetic variants with familial short stature in Han Chinese in Taiwan
title_sort	association of human height-related genetic variants with familial short stature in han chinese in taiwan
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/78bc59b5d1f841d4ba370237da413dde
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Association of human height-related genetic variants with familial short stature in Han Chinese in Taiwan

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