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Genetic Variants and Disease Biomarkers through Methylation

Published 19/08/2024

Genetic Variants and Disease Biomarkers through Methylation

Background and Importance

Methylation, a process that adds chemical markers to DNA, plays a key role in regulating gene expression. However, until recently, researchers were unclear about how much genetic variations, known as single nucleotide polymorphisms (SNPs), contributed to changes in DNA methylation and how this affects human health. A peer-reviewed study published in PLOS Genetics set out to explore this relationship, focusing on whether genetic variants influence DNA methylation and, in turn, disease-related protein biomarkers.

What Was Studied?

The research involved 1,033 participants from Sweden and used advanced genetic analysis techniques. The study’s goal was to understand how genetic variations, measured by over 10 million SNPs, affect DNA methylation and how both factors might influence levels of proteins linked to serious diseases such as inflammation, cancer, and cardiovascular conditions. These proteins serve as biomarkers—biological indicators of disease.

Key Findings

  • Genetic Control of Methylation: Genetic variations were found to significantly influence DNA methylation levels. The study confirmed that SNPs can directly alter how much DNA is methylated, which in turn regulates the activity of genes.
  • Methylation and Protein Biomarkers: The study revealed that changes in DNA methylation, driven by genetics, can affect levels of key protein biomarkers. These proteins are linked to disease processes, meaning methylation could offer an additional layer of understanding beyond genetics alone.
  • Genetics and Disease Risk: This research showed that methylation, influenced by genetic factors, could play a role in disease risk, adding an extra dimension to genetic predisposition.

Study Strengths and Limitations

This study stands out for its use of a large sample size and robust genetic and methylation data. The Proximity Extension Assay (PEA) used to measure proteins is highly sensitive, providing accurate data. However, the study focuses on association, not causality, meaning we can’t yet say if these methylation changes cause disease or if they are just markers of it.

Why This Matters

Understanding how genetics influence methylation gives researchers a more complete picture of disease risk. This could lead to better predictive tools for diagnosing conditions like cancer and heart disease earlier. Eventually, personalized treatments could be developed, targeting the genetic and methylation factors that make someone more susceptible to illness. This study marks a step forward in the journey toward precision medicine, where interventions are tailored to a person's unique genetic and epigenetic profile.

Conclusions

This study concludes that genetic variations, specifically single nucleotide polymorphisms (SNPs), significantly influence DNA methylation levels, which in turn affect the levels of disease-related protein biomarkers.

By analyzing over 10 million SNPs in a cohort of 1,033 participants, the researchers identified that genetic factors exert control over methylation processes that regulate key biomarkers linked to inflammation, cancer, and cardiovascular diseases.

These findings suggest that methylation serves as a crucial link between genetic variation and disease risk.

Understanding this relationship could lead to improved predictive tools for disease risk assessment and personalized medicine, particularly in areas like early detection and targeted treatments for complex conditions such as cancer.

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