Applications Of Transcriptomics And Pharmacogenomics In The Study Of Human Complex Diseases

For nearly 30 years, along with our country economic development and the progress of science and technology, there is a great improvement of people’s living standards and medical conditions. As a whole, the people’s health and living standards are improved, and the average life expectancy is also gradually extended. At present, there are few researches on the systematic study of human complex diseases, and little is known about its pathogenesis, mechanism of action and physiological processes. Therefore, new methods and ideas have to be introduced in view of human complex disease research, to conduct a comprehensive and systematic biology research from various angles. In order to understand the pathogenesis, mechanism of action and a variety of physiological and biochemical reactions in the body. So as to achieve effective prevention and accurate diagnosis of the diseases, and for targeted drug development has a certain guiding significance. This topic by comprehensive utilization of bio-informatics transcriptome analysis technology and analysis method of pharmacogenomics, from expressing spectrum, pathways, transcription factors and gene polymorphism of investigate the prevalence differences in population and normal population.Transcriptional genomics has been widely used in many diseases such as cancer, cardiovascular disease and so on. This study screened the gene expression data set of breast cancer and prostate cancer from the gene expression database of the National Biotechnology Information Center. Using bioinformatics methods, made systematic analysis of the differences between normal and various diseases and diseases through the biological information expression, biological process enrichment pathway, protein-protein interaction, gene transcription factors. This study reveals the breast cancer and prostate cancer genome matrix heterogeneity and differences in transcription factor. In order to provide comprehensive information on the stromal heterogeneity of diverse tumors, here we employed the microarray datasets of human invasive breast and prostate cancer-associated stromals and applied Gene Set Enrichment Analysis (GSEA) to compare the gene expression profiles between them.As a result,8 up-regulated pathways and 73 down-regulated pathways were identified in the breast tumor stroma, while 32 up-regulated pathways and 18 down-regulated pathways were identified in the prostate tumor stroma. Only 9 pathways such as tryptophan metabolism were commonly up or down regulated, but most of them (including ABC transporters) were specific for these two tumors. Several essential tumors stromal marker genes were also significantly identified. For example, CDH3 was significantly up-regulated in the stromals of both breast and prostate tumors, however EGFR was only significantly down-regulated in the stromal of breast tumor. These studies provide valuable information for future disease therapy and drug development, as the guiding significance for individual treatment of the population as well.In addition, there is a close relationship between genetic polymorphisms and cardiovascular disease. Folic acid, high blood lipids, high blood pressure and homocysteine are the major risk factors for cardiovascular disease. This paper using clinical trial data analysed the genetic polymorphisms of homocysteine metabolism pathway key enzyme (methylene tetrahydrofolate reductase (MTHFR) C677T and A1298C, methionine synthase (MTR) A2756G and methionine synthase reductase (MTRR) A66G) and plasma homocysteine, blood pressure and blood lipid level in mild to moderate hypertension in the Chinese population correlation. It was found that the cumulative effect of risk genes and folic acid deficiency significantly increased plasma homocysteine levels, but also increased the prevalence of dyslipidemia. In addition, the interaction between methylene tetrahydrofolate reductase gene polymorphism and homocysteine significantly increased baseline of the blood pressure of population. The study reveals that the risk factors of these gene polymorphisms and cardiovascular disease have a significant correlation, for individual health care, disease prediction and drug discovery has important significance in the future.Comprehensive use of the biological information science and pharmacogenomic studies of human diseases can provide valuable information to precise medical and molecular target treatment, and can greatly promote the development of biomedical informatics, for humans is a great benefit.