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Epigenome-Wide Association Studies (EWAS) in Cancer
Curr Genomics. 2012 Jun;13(4):308-13. doi: 10.2174/138920212800793294.
Epigenome-Wide Association Studies (EWAS) in Cancer.
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Epidemiology and Genetics Research Program, Division of Cancer Control and Population Sciences, Division of Epidemiology and Genetics, National Cancer Institute, National Institutes of Health (NIH), 6130 Executive Boulevard, Suite 5100, Bethesda, MD 20892-7324, USA.Abstract
After completion of the human genome, genome-wide association studies were conducted to identify single nucleotide polymorphisms (SNPs) associated with cancer initiation and progression. Most of the studies identified SNPs that were located outside the coding region, and the odds ratios were too low to implement in clinical practice. Although the genome gives information about genome sequence and structure, the human epigenome provides functional aspects of the genome. Epigenome-wide association studies (EWAS) provide an opportunity to identify genome-wide epigenetic variants that are associated with cancer. However, there are problems and issues in implementing EWAS to establish an association between epigenetic profiles and cancer. Few challenges include selection and handling of samples, choice of population and sample size, accurate measurement of exposure, integrating data, and insufficient information about the role of repeat sequences. The current status of EWAS, challenges in the field, and their potential solutions are discussed in this article.- PMID:
- 23204920
- [PubMed]
Curr Genomics. 2012 June; 13(4): 308–313.
Published online 2012 June. doi: 10.2174/138920212800793294
PMCID: PMC3394118
Epigenome-Wide Association Studies (EWAS) in Cancer
Abstract
After completion of the human genome, genome-wide association studies were conducted to identify single nucleotide polymorphisms (SNPs) associated with cancer initiation and progression. Most of the studies identified SNPs that were located outside the coding region, and the odds ratios were too low to implement in clinical practice. Although the genome gives information about genome sequence and structure, the human epigenome provides functional aspects of the genome. Epigenome-wide association studies (EWAS) provide an opportunity to identify genome-wide epigenetic variants that are associated with cancer. However, there are problems and issues in implementing EWAS to establish an association between epigenetic profiles and cancer. Few challenges include selection and handling of samples, choice of population and sample size, accurate measurement of exposure, integrating data, and insufficient information about the role of repeat sequences. The current status of EWAS, challenges in the field, and their potential solutions are discussed in this article.
Keywords: Acetylation, biomarker, chromatin, environmental mutagens, epidemiology, epigenetics, histone acetyl transferase (HAT), histone, histone deacetylase (HDAC), histone code, imprinting, methylation, methyl transferase, mutagens, risk assessment, screening.
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