Arid
DOI10.3389/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
ISSN1664-2392
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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