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Published on: August 15, 2019
[Complex diseases: the importance of genetics].
1Assistant Hospitalier Scientifique, Centre de Génétique, CHU de Liège, Belgique.
Revue Medicale De Liege
|August 16, 2012
Summary
Complex diseases involve multiple genes and environmental factors. While genome-wide association studies identify some genes, rare variants and epigenetics are key to understanding missing heritability for personalized prevention.
Area of Science:
- Genetics and Genomics
- Complex Disease Etiology
- Epigenetics
Context:
- Complex diseases arise from interactions between genetic predispositions and environmental influences.
- Family, twin, and adoption studies confirm the significant role of heredity.
- Genome-wide association studies (GWAS) have identified numerous susceptibility genes.
Purpose:
- To explore the genetic underpinnings of complex diseases.
- To investigate the contribution of rare genetic variants and epigenetic factors to heritability.
- To move towards a "predict and prevent" model for complex diseases.
Summary:
- Complex diseases result from the interplay of hereditary factors and environmental exposures.
- While GWAS have advanced gene discovery, a substantial portion of heritability remains unexplained.
- Unexplored rare genetic variants and epigenetic modifications are likely contributors to this missing heritability.
Impact:
- Highlights the limitations of current genetic studies in fully explaining complex diseases.
- Emphasizes the need for deeper investigation into rare variants and epigenetics.
- Suggests that personalized risk prediction and prevention strategies for complex diseases are still distant goals.
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