期刊論文
| 學年 | 105 |
|---|---|
| 學期 | 2 |
| 出版（發表）日期 | 2017-07-25 |
| 作品名稱 | Association of human height-related genetic variants with familial short stature in Han Chinese in Taiwan |
| 作品名稱（其他語言） | |
| 著者 | Ying-Ju Lin; Wen-Ling Liao; Chung-Hsing Wang; Li-Ping Tsai; Chih-Hsin Tang; Chien-Hsiun Chen; Jer-Yuarn Wu; Wen-Miin Liang; Hsieh Ai-Ru; Chi-Fung Cheng; Jin-Hua Chen; Wen-Kuei Chien; Ting-Hsu Lin; Chia-Ming Wu; Chiu-Chu Liao; Shao-Mei Huang; Fuu-Jen Tsai |
| 單位 | |
| 出版者 | |
| 著錄名稱、卷期、頁數 | Scientific Reports 7, p.6372 |
| 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. |
| 關鍵字 | Risk factors;Genome-wide association studies |
| 語言 | zh_TW |
| ISSN | |
| 期刊性質 | 國內 |
| 收錄於 | |
| 產學合作 | |
| 通訊作者 | |
| 審稿制度 | 否 |
| 國別 | TWN |
| 公開徵稿 | |
| 出版型式 | ,電子版 |
| 相關連結 |
機構典藏連結 ( http://tkuir.lib.tku.edu.tw:8080/dspace/handle/987654321/117103 ) |