17. Genomics and epigenetics in public health. Nutrigenomics
- Most diseases with a genetic component can not be traced back to a single gene but rather multiple
- Exceptions: Cystic fibrosis, Huntington disease
- Genomics = the interactions of all genes and their combined influence on the organism
- Genetics = the study of heredity. The effect of single gene mutations on the organism
- Genomics in public health – Using genome-based discoveries for health benefits of the population
- Genomics are important in
- Determining why exposure only causes the disease in some people
- Determining why prognostic factors have different importance in different people
- Determining why treatment only works in some people
- How to start:
- Candidate gene studies
- A gene is suspected for having a role in disease
- Identify differences in one gene in patients and controls
- Genome-wide association studies
- No prior gene candidate is needed
- Identify genetic differences in the whole genome of patients and controls
- Can find alleles of a gene which increases susceptibility
- Candidate gene studies
- Personalized medicine
- Use genetic testing to find screening, treatment, and other preventative measures that are best suited for the patient
- Will prevent overdiagnosis and overtreatment
- Examples
- Genetic information of nicotine metabolism can be used to personalize smoking cessation
- Genetic information can give indication for screening, if high-risk genotypes are present
- Genetic information can tell us upfront which treatments will be most effective
Epigenetics
- Definition: Instructions for the cell on how and when to read DNA
- Epigenetics changes gene expression
- Genetically identical organisms can have different phenotype due to different epigenetics
- Types
- Acetylation of histones
- Methylation of DNA
- Presence of miRNA
- Chromatin remodelling
- Environmental factors can change epigenetics of an individual, and therefore the expression of the DNA
- Folic acid necessary for DNA methylation -> deficiency could theoretically cause hypomethylation and carcinogenesis
- MicroRNA profiles in blood could be used as biomarkers
- Already used for CRC
- Drugs affecting epigenetics = epigenetic drugs
- Used as chemotherapeutic agents against cancer
- Epigenetic alterations are reversible and can be reversed by these drugs
- Unlike genetic mutations
- They demethylate DNA or acetylate histones
- This can reactivate silenced tumor suppressors, repress activated oncogenes, etc.
Nutrigenomics
- Definition: The relationship between nutrition and genomics
- Basically how what you eat can change epigenetics
- Deficiency of certain nutrients (folate, B12, C, E) can cause DNA changes similar to those seen after radiation
- Folate
- Folate is required for DNA methylation
- Folate deficiency -> DNA hypomethylation -> carcinogenesis
- Methyl-donating nutrients
- Diets high in methyl-donating nutrients can alter gene expression
- Especially during early development
- Examples
- Methionine
- Folate
- B12
- Maternal nutrition
- Maternal nutritional status during early pregnancy can cause permanent epigenetic changes in the foetus