Functional Variants Identified Efficiently through an Integrated Transcriptome and Epigenome Analysis

Abstract Although genome-wide association studies (GWAS) have identified numerous genetic loci associated with complex diseases, the underlying molecular mechanisms of how these loci contribute to disease pathogenesis remain largely unknown, due to the lack of an efficient strategy to identify these...

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Main Authors:	Fanlin Meng, Guohong Yuan, Xiurui Zhu, Yiming Zhou, Dong Wang, Yong Guo
Format:	article
Language:	EN
Published:	Nature Portfolio 2018
Subjects:	Medicine R Science Q
Online Access:	https://doaj.org/article/7d1d4c154ce1401395cde1f92e38ef20
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spelling	oai:doaj.org-article:7d1d4c154ce1401395cde1f92e38ef202021-12-02T15:08:03ZFunctional Variants Identified Efficiently through an Integrated Transcriptome and Epigenome Analysis10.1038/s41598-018-21024-62045-2322https://doaj.org/article/7d1d4c154ce1401395cde1f92e38ef202018-02-01T00:00:00Zhttps://doi.org/10.1038/s41598-018-21024-6https://doaj.org/toc/2045-2322Abstract Although genome-wide association studies (GWAS) have identified numerous genetic loci associated with complex diseases, the underlying molecular mechanisms of how these loci contribute to disease pathogenesis remain largely unknown, due to the lack of an efficient strategy to identify these risk variants. Here, we proposed a new strategy termed integrated transcriptome and epigenome analysis (iTEA) to identify functional genetic variants in non-coding elements. We considered type 2 diabetes mellitus as a model and identified a well-known diabetic risk variant rs35767 using iTEA. Furthermore, we discovered a new functional SNP, rs815815, involved in glucose metabolism. Our study provides an approach to directly and quickly identify functional genetic variants in type 2 diabetes mellitus, and this approach can be extended to study other complex diseases.Fanlin MengGuohong YuanXiurui ZhuYiming ZhouDong WangYong GuoNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 8, Iss 1, Pp 1-13 (2018)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Fanlin Meng Guohong Yuan Xiurui Zhu Yiming Zhou Dong Wang Yong Guo Functional Variants Identified Efficiently through an Integrated Transcriptome and Epigenome Analysis
description	Abstract Although genome-wide association studies (GWAS) have identified numerous genetic loci associated with complex diseases, the underlying molecular mechanisms of how these loci contribute to disease pathogenesis remain largely unknown, due to the lack of an efficient strategy to identify these risk variants. Here, we proposed a new strategy termed integrated transcriptome and epigenome analysis (iTEA) to identify functional genetic variants in non-coding elements. We considered type 2 diabetes mellitus as a model and identified a well-known diabetic risk variant rs35767 using iTEA. Furthermore, we discovered a new functional SNP, rs815815, involved in glucose metabolism. Our study provides an approach to directly and quickly identify functional genetic variants in type 2 diabetes mellitus, and this approach can be extended to study other complex diseases.
format	article
author	Fanlin Meng Guohong Yuan Xiurui Zhu Yiming Zhou Dong Wang Yong Guo
author_facet	Fanlin Meng Guohong Yuan Xiurui Zhu Yiming Zhou Dong Wang Yong Guo
author_sort	Fanlin Meng
title	Functional Variants Identified Efficiently through an Integrated Transcriptome and Epigenome Analysis
title_short	Functional Variants Identified Efficiently through an Integrated Transcriptome and Epigenome Analysis
title_full	Functional Variants Identified Efficiently through an Integrated Transcriptome and Epigenome Analysis
title_fullStr	Functional Variants Identified Efficiently through an Integrated Transcriptome and Epigenome Analysis
title_full_unstemmed	Functional Variants Identified Efficiently through an Integrated Transcriptome and Epigenome Analysis
title_sort	functional variants identified efficiently through an integrated transcriptome and epigenome analysis
publisher	Nature Portfolio
publishDate	2018
url	https://doaj.org/article/7d1d4c154ce1401395cde1f92e38ef20
work_keys_str_mv	AT fanlinmeng functionalvariantsidentifiedefficientlythroughanintegratedtranscriptomeandepigenomeanalysis AT guohongyuan functionalvariantsidentifiedefficientlythroughanintegratedtranscriptomeandepigenomeanalysis AT xiuruizhu functionalvariantsidentifiedefficientlythroughanintegratedtranscriptomeandepigenomeanalysis AT yimingzhou functionalvariantsidentifiedefficientlythroughanintegratedtranscriptomeandepigenomeanalysis AT dongwang functionalvariantsidentifiedefficientlythroughanintegratedtranscriptomeandepigenomeanalysis AT yongguo functionalvariantsidentifiedefficientlythroughanintegratedtranscriptomeandepigenomeanalysis
_version_	1718388260282040320

Functional Variants Identified Efficiently through an Integrated Transcriptome and Epigenome Analysis

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