Association Study between Diseases and Human Tissue-Specific Epigenomes Open Access
Yang, Yixin (Spring 2023)
Abstract
Background: Genome-wide association studies (GWAS) provide a robust methodology for detecting genetic variations that are linked to human diseases. This information is valuable for personalized risk assessment and precision medicine, as it enables clinicians to tailor treatments to the specific genetic profiles of individual patients.
Objectives: By testing the enrichment of disease-related variants enrichment in epigenomes to examine whether there is any associations between diseases and tissue-specific epigenomes
Methods: We used single nucleotide polymorphisms’ location to retrieve corresponding chromatin states among 127 tissue-specific epigenomes. Binomial tests were applied to identify the enrichment of diseases- and trait-associated genetic variants in tissue-specific epigenomes.
Results: We performed an analysis of the top 100 SNPs with the highest p-values to investigate potential genetic associations with 186 unique diseases. Our findings revealed significant enrichment in blood and T-cell related tissues for immune-related diseases, such as leukemia lymphocytic chronic-BCell, type 1 diabetes mellitus, inflammatory bowel diseases, arthritis, rheumatoid, and multiple sclerosis. Additionally, we observed that crohn disease-related genetic variants were enriched in digestive-associated tissues, while celiac disease-related genetic variants were enriched in muscle and lung related tissues. These results are consistent with previous studies and provide further evidence for the importance of tissue-specific genetic analyses in understanding disease pathogenesis.
Conclusion: Our study provided a valuable resource for interpreting the molecular basis of human diseases and highlight the potential of GWAS to identify sequence variants linked to common diseases and traits. Additionally, our study demonstrates the power of integrating epigenomic and genomic data to gain insights into the underlying biological mechanisms of disease.
Table of Contents
1. Introduction
2. Methods
2.1 Data source
2.2 Data analysis
2.3 Data validation
3. Results
3.1 Data summary
3.2 Heatmaps and Tables
3.3 Data validation
4. Discussion
References
About this Master's Thesis
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Association Study between Diseases and Human Tissue-Specific Epigenomes () | 2023-04-14 02:00:07 -0400 |
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