教師資料查詢 | 類別: 期刊論文 | 教師: 謝璦如 HSIEH, AI-RU (瀏覽個人網頁)

標題:Association of human height-related genetic variants with familial short stature in Han Chinese in Taiwan
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
語言中文
ISSN
期刊性質國內
收錄於
產學合作
通訊作者
審稿制度
國別中華民國
公開徵稿
出版型式,電子版
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