Independent DNA Variants Shed Light on Cancer, Rheumatoid Arthritis

Researchers demonstrated that independent DNA variants linked to diseases that share similar biological properties opens the door to understand the genetic and biological basis of diseases such as Alzheimer’s disease, cancer, diabetes, and rheumatoid arthritis.

For the study, published online in npj Genomic Medicine, researchers sought to understand the common genetic and biological backgrounds that causes certain people to be more susceptible to the same disease.

“The discovery of these shared properties offer the opportunity to broaden our understanding of the biological basis of disease and identify new therapeutic targets,” said lead study author Yves A. Lussier, MD, FACMI.

Over the last 10 years, genetics researchers have conducted Genome Wide Association Studies (GWAS) to analyze DNA variants across thousands of human genomes in order to identify those more frequently found in people with diseases.

In order to explore the biological impact of these variants and how they are linked to disease, a method was developed to help demonstrate how the DNA variants share similar biological properties.

During the study, researchers found that DNA risk variants can affect biological activities, such as gene expression and cellular machinery.

When the DNA risk variants for a given disease were analyzed in combination, similar biological activities were found. This suggests that distinct risk variants can affect the same/shared biological functions, leading to the development of the same disease.

A more detailed analysis was conducted on DNA variants linked to Alzheimer’s disease, rheumatoid arthritis, and bladder cancer. The results of the analysis showed that 2 variants can contribute to disease independently, but the variants interact genetically. This implies that the precise combination of DNA variants of a patient could work to either increase or decrease the relative risk of disease.

Additionally, current research seeks to develop methods that unveil the biological incidence of DNA variants that are overlooked to help make more informed clinical decisions on personalized treatment options that cater to patient genetic and biological background.