Heart disease has been linked with inflammation. Because signaling related to the protein biomarker interleukin-6 receptor (IL6R) can lead to inflammation, a team of researchers from the IL6R Genetics Consortium Emerging Risk Factors Collaboration looked at a genetic variant that affects this pathway to see if it was behind some aspects of the disease and could therefore also be a target for treatment and prevention.
In the study published in The Lancet, the researchers carried out a meta-analysis of human genetic and biomarker data from more than 200,000 participants in 85 studies, looking at the genetic variant Asp358Ala and comparing its frequency in people with coronary heart disease and in healthy people.
People who carried the Asp358Ala variant had lower levels of inflammation markers and reduced risk of heart disease, which fell even further with each additional copy of the variant.
Dr. Adam Butterworth, who co-led the study from the University of Cambridge, said: "Individuals carrying 358Ala had lower levels of markers of systemic inflammation, suggesting that this variant dampens the inflammatory response. As carriers of this variant also had a decreased risk of heart disease, this strongly indicates that IL6R pathways play a causal role in coronary heart disease."
In a mendelian randomization analysis published in The Lancet at the same time, members of the Interleukin-6 Receptor Mendelian Randomization Analysis (IL6R MR) Consortium also found a causal role for IL6R signaling in the development of coronary heart disease, suggesting a target for existing or new drugs in the prevention of the condition.