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DOI | 10.3389/fendo.2015.00102 |
Connecting SNPs in diabetes: a spatial analysis of meta-GWAS loci | |
Schierding, William1; O’sullivan, Justin M.1,2 | |
通讯作者 | O’sullivan, Justin M. |
来源期刊 | FRONTIERS IN ENDOCRINOLOGY
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ISSN | 1664-2392 |
出版年 | 2015 |
卷号 | 6 |
英文摘要 | Meta-analyses of genome-wide association studies (GWAS) have improved our understanding of the genetic foundations of a number of diseases, including diabetes. However, single nucleotide polymorphisms (SNPs) that are identified by GWAS, especially those that fall outside of gene regions, do not always clearly link to the underlying biology. Despite this, these SNPs have often been validated through re-sequencing efforts as not just tag SNPs, but as causative SNPs, and so must play a role in disease development or progression. In this study, we show how the 3D genome (spatial connections) and trans-expression Quantitative Trait Loci connect diabetes loci from different GWAS meta-analyses, informing the backbone of regulatory networks. Our findings include a three-way functional spatial connection between the TM6SF2, CTRB1-BCAR1, and CELSR2-PSRC1 loci (rs201189528, rs7202844, and rs7202844, respectively) connected through the KCNIP3 and BCAR1/BCAR3 loci, respectively. These spatial hubs serve as an example of how loci in genes with little biological connection to disease come together to contribute to the diabetes phenotype. |
英文关键词 | GWAS epigenetics DNA folding gene deserts meta-analysis diabetes |
类型 | Article |
语种 | 英语 |
国家 | New Zealand |
收录类别 | SCI-E |
WOS记录号 | WOS:000378480700001 |
WOS关键词 | GENOME-WIDE ASSOCIATION ; GENETIC ARCHITECTURE ; METAANALYSIS ; PRINCIPLES ; VARIANTS ; PROTEINS |
WOS类目 | Endocrinology & Metabolism |
WOS研究方向 | Endocrinology & Metabolism |
资源类型 | 期刊论文 |
条目标识符 | http://119.78.100.177/qdio/handle/2XILL650/187359 |
作者单位 | 1.Univ Auckland, Liggins Inst, Private Bag 92019,Auckland Mail Ctr, Auckland 1142, New Zealand; 2.Univ Auckland, Gravida Natl Ctr Growth & Dev, Auckland 1142, New Zealand |
推荐引用方式 GB/T 7714 | Schierding, William,O’sullivan, Justin M.. Connecting SNPs in diabetes: a spatial analysis of meta-GWAS loci[J],2015,6. |
APA | Schierding, William,&O’sullivan, Justin M..(2015).Connecting SNPs in diabetes: a spatial analysis of meta-GWAS loci.FRONTIERS IN ENDOCRINOLOGY,6. |
MLA | Schierding, William,et al."Connecting SNPs in diabetes: a spatial analysis of meta-GWAS loci".FRONTIERS IN ENDOCRINOLOGY 6(2015). |
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