دورية أكاديمية
Integrated Analysis of Tissue-Specific Promoter Methylation and Gene Expression Profile in Complex Diseases
العنوان: | Integrated Analysis of Tissue-Specific Promoter Methylation and Gene Expression Profile in Complex Diseases |
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المؤلفون: | Kibaick Lee, Sanghoon Moon, Mi-Jin Park, In-Uk Koh, Nak-Hyeon Choi, Ho-Yeong Yu, Young Jin Kim, Jinhwa Kong, Hee Gyung Kang, Song Cheol Kim, Bong-Jo Kim |
المصدر: | International Journal of Molecular Sciences, Vol 21, Iss 14, p 5056 (2020) |
بيانات النشر: | MDPI AG, 2020. |
سنة النشر: | 2020 |
المجموعة: | LCC:Biology (General) LCC:Chemistry |
مصطلحات موضوعية: | tissue-specific expression, DNA methylation, type 2 diabetes, obesity, Biology (General), QH301-705.5, Chemistry, QD1-999 |
الوصف: | This study investigated whether the promoter region of DNA methylation positively or negatively regulates tissue-specific genes (TSGs) and if it correlates with disease pathophysiology. We assessed tissue specificity metrics in five human tissues, using sequencing-based approaches, including 52 whole genome bisulfite sequencing (WGBS), 52 RNA-seq, and 144 chromatin immunoprecipitation sequencing (ChIP-seq) data. A correlation analysis was performed between the gene expression and DNA methylation levels of the TSG promoter region. The TSG enrichment analyses were conducted in the gene–disease association network (DisGeNET). The epigenomic association analyses of CpGs in enriched TSG promoters were performed using 1986 Infinium MethylationEPIC array data. A correlation analysis showed significant associations between the promoter methylation and 449 TSGs’ expression. A disease enrichment analysis showed that diabetes- and obesity-related diseases were high-ranked. In an epigenomic association analysis based on obesity, 62 CpGs showed statistical significance. Among them, three obesity-related CpGs were newly identified and replicated with statistical significance in independent data. In particular, a CpG (cg17075888 of PDK4), considered as potential therapeutic targets, were associated with complex diseases, including obesity and type 2 diabetes. The methylation changes in a substantial number of the TSG promoters showed a significant association with metabolic diseases. Collectively, our findings provided strong evidence of the relationship between tissue-specific patterns of epigenetic changes and metabolic diseases. |
نوع الوثيقة: | article |
وصف الملف: | electronic resource |
اللغة: | English |
تدمد: | 1422-0067 1661-6596 |
Relation: | https://www.mdpi.com/1422-0067/21/14/5056; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067 |
DOI: | 10.3390/ijms21145056 |
URL الوصول: | https://doaj.org/article/96458080a4e9481993d1df48610139f0 |
رقم الأكسشن: | edsdoj.96458080a4e9481993d1df48610139f0 |
قاعدة البيانات: | Directory of Open Access Journals |
تدمد: | 14220067 16616596 |
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DOI: | 10.3390/ijms21145056 |