Common diseases
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Understanding Common Diseases: Genetic and Environmental Influences
Common Illnesses: Components and Representations
Common illnesses are often understood through a framework involving five key components: a label, consequences, a timeline, a cause, and a cure. These components shape how individuals perceive and react to diseases, influencing their health beliefs and behaviors over time. The traditional germ model, which attributes illness to external agents like germs, is overly simplistic. People's subjective experiences with diseases vary significantly, affecting how they report symptoms and seek treatment.
Genetic Basis of Common Diseases
Genome-Wide Association Studies (GWAS)
The genetic basis of common diseases is complex, involving both genetic and environmental factors. Genome-wide association studies (GWAS) have been instrumental in identifying numerous genetic variants associated with common diseases. These studies have revealed that many genetic loci contribute to disease risk, often involving noncoding regions that regulate gene expression . The cumulative effect of these genetic variants, quantified as polygenic risk scores, can help identify individuals at higher risk, facilitating early intervention and prevention.
Common vs. Rare Variants
There is ongoing debate about whether common diseases are primarily influenced by common genetic variants with modest effects or by rare variants with significant effects. Research suggests that a limited number of common variants can explain a substantial proportion of the genetic predisposition to common diseases . However, rare variants also play a crucial role, particularly in cases where they have large individual effects .
Incidence and Mortality of Common Diseases Globally
Variations Across Income Levels
The incidence and mortality rates of common diseases vary significantly across different income levels. Cardiovascular diseases are the leading cause of death globally, with higher incidence rates in low- and middle-income countries (LICs and MICs) compared to high-income countries (HICs). Conversely, cancers, injuries, and respiratory diseases like COPD and pneumonia are more prevalent in HICs. Mortality rates are highest in LICs, primarily due to limited access to healthcare, despite having fewer cardiovascular risk factors compared to HICs.
Transition in Predominant Causes of Death
As cardiovascular disease rates decline in many countries, cancer is becoming the leading cause of death in middle-aged adults in HICs and some upper-MICs. This shift underscores the need for evolving health strategies to address the changing landscape of common diseases.
Lessons from Monogenic Diseases
Research on rare monogenic diseases has provided valuable insights into the genetic mechanisms underlying common diseases. Mutations identified in rare familial forms of diseases have highlighted critical pathways involved in the pathogenesis of common health problems. These findings emphasize the importance of studying both common and rare genetic variants to fully understand the genetic architecture of common diseases.
Conclusion
Understanding common diseases requires a multifaceted approach that considers both genetic and environmental factors. Advances in genetic research, particularly through GWAS, have significantly enhanced our knowledge of the genetic underpinnings of these diseases. However, the complexity of common diseases necessitates ongoing research to unravel the intricate interactions between multiple genetic variants and environmental influences. As our understanding deepens, it will pave the way for more effective prevention, early intervention, and treatment strategies tailored to individual genetic profiles.
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