Association of human heigh-trelated genetic variants with familial short stature in Han Chinese in Taiwan

被引：23

作者：

Lin, Ying-Ju ^{[1
,2
]}

Liao, Wen-Ling ^{[3
,4
]}

Wang, Chung-Hsing ^{[5
]}

Tsai, Li-Ping ^{[6
]}

Tang, Chih-Hsin ^{[7
]}

Chen, Chien-Hsiun ^{[2
,8
]}

Wu, Jer-Yuarn ^{[2
,8
]}

Liang, Wen-Miin ^{[9
]}

Hsieh, Ai-Ru ^{[9
]}

Cheng, Chi-Fung ^{[9
]}

Chen, Jin-Hua ^{[10
,11
]}

Chien, Wen-Kuei ^{[12
]}

Lin, Ting-Hsu ^{[1
]}

Wu, Chia-Ming ^{[1
]}

Liao, Chiu-Chu ^{[1
]}

Huang, Shao-Mei ^{[1
]}

Tsai, Fuu-Jen ^{[1
,2
,5
,13
]}

机构：

[1] China Med Univ Hosp, Dept Med Res, Genet Ctr, Taichung, Taiwan

[2] China Med Univ, Sch Chinese Med, Taichung, Taiwan

[3] China Med Univ, Grad Inst Integrated Med, Taichung, Taiwan

[4] China Med Univ Hosp, Ctr Personalized Med, Taichung, Taiwan

[5] China Med Univ, Childrens Hosp, Taichung, Taiwan

[6] Buddhist Tzu Chi Gen Hosp, Taipei Branch, Dept Pediat, Taipei, Taiwan

[7] China Med Univ, Grad Inst Biomed Sci, Taichung, Taiwan

[8] Acad Sinica, Inst Biomed Sci, Taipei, Taiwan

[9] China Med Univ, Grad Inst Biostat, Sch Publ Hlth, Taichung, Taiwan

[10] Taipei Med Univ, Biostat Ctr, Taipei, Taiwan

[11] Taipei Med Univ, Sch Publ Hlth, Taipei, Taiwan

[12] Natl Ctr High Performance Comp, Natl Appl Res Labs, Hsinchu, Taiwan

[13] Asia Univ, Dept Biotechnol & Bioinformat, Taichung, Taiwan

来源：

SCIENTIFIC REPORTS | 2017年 / 7卷

关键词：

GENOME-WIDE ASSOCIATION; PONTOCEREBELLAR HYPOPLASIA; SEQUENCE VARIANTS; KAWASAKI-DISEASE; CHROMOSOME; 18Q; ADULT HEIGHT; NCAPG-LCORL; PROTEIN; CABLES; GROWTH;

D O I：

10.1038/s41598-017-06766-z

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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.

引用

页数：7

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