Functional annotation of sixty-five type-2 diabetes risk SNPs and its application in risk prediction
文献类型：期刊论文
| 作者 | Wu, Yiming2; Jing, Runyu1; Dong, Yongcheng3; Kuang, Qifan2; Li, Yan2; Huang, Ziyan2; Gan, Wei4; Xue, Yue2; Li, Yizhou2; Li, Menglong2 |
| 刊名 | SCIENTIFIC REPORTS
 |
| 出版日期 | 2017-03-06 |
| 卷号 | 7页码:11 |
| ISSN号 | 2045-2322 |
| DOI | 10.1038/srep43709 |
| 英文摘要 | Genome-wide association studies (GWAS) have identified more than sixty single nucleotide polymorphisms (SNPs) associated with increased risk for type 2 diabetes (T2D). However, the identification of causal risk SNPs for T2D pathogenesis was complicated by the factor that each risk SNP is a surrogate for the hundreds of SNPs, most of which reside in non-coding regions. Here we provide a comprehensive annotation of 65 known T2D related SNPs and inspect putative functional SNPs probably causing protein dysfunction, response element disruptions of known transcription factors related to T2D genes and regulatory response element disruption of four histone marks in pancreas and pancreas islet. In new identified risk SNPs, some of them were reported as T2D related SNPs in recent studies. Further, we found that accumulation of modest effects of single sites markedly enhanced the risk prediction based on 1989 T2D samples and 3000 healthy controls. The AROC value increased from 0.58 to 0.62 by only using genotype score when putative risk SNPs were added. Besides, the net reclassification improvement is 10.03% on the addition of new risk SNPs. Taken together, functional annotation could provide a list of prioritized potential risk SNPs for the further estimation on the T2D susceptibility of individuals. |
| 资助项目 | National Natural Science Foundation of China[21375095] ; National Natural Science Foundation of China[21305096] |
| WOS研究方向 | Science & Technology - Other Topics |
| 语种 | 英语 |
| WOS记录号 | WOS:000395545000001 |
| 出版者 | NATURE PUBLISHING GROUP |
| 源URL | [http://119.78.100.204/handle/2XEOYT63/7512]  |
| 专题 | 中国科学院计算技术研究所期刊论文_英文 |
| 通讯作者 | Li, Yizhou; Li, Menglong |
| 作者单位 | 1.Chinese Acad Sci, Shenzhen Inst Adv Technol, Ctr High Performance Comp, Shenzhen 518055, Peoples R China 2.Sichuan Univ, Coll Chem, Chengdu 610064, Peoples R China 3.Sichuan Univ, Coll Life Sci, Chengdu 610064, Peoples R China 4.Sichuan Univ, Coll Comp Sci, Chengdu 610064, Peoples R China |
| 推荐引用方式 GB/T 7714 | Wu, Yiming,Jing, Runyu,Dong, Yongcheng,et al. Functional annotation of sixty-five type-2 diabetes risk SNPs and its application in risk prediction[J]. SCIENTIFIC REPORTS,2017,7:11. |
| APA | Wu, Yiming.,Jing, Runyu.,Dong, Yongcheng.,Kuang, Qifan.,Li, Yan.,...&Li, Menglong.(2017).Functional annotation of sixty-five type-2 diabetes risk SNPs and its application in risk prediction.SCIENTIFIC REPORTS,7,11. |
| MLA | Wu, Yiming,et al."Functional annotation of sixty-five type-2 diabetes risk SNPs and its application in risk prediction".SCIENTIFIC REPORTS 7(2017):11. |
入库方式： OAI收割
来源：计算技术研究所
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