- Cardiometabolic factors like type 2 diabetes, coronary artery disease and obesity are multifactorial and complex diseases.
- They are influenced by a number of lifestyle factors like diet and exercise in addition to genetic factors.
- A set of 90 genes in fat cells have been identified that could potentially influence risk for obesity risk and other cardiometabolic traits.
Approximately 90 genes found in fat cells have been identified that could play important roles in the risk for obesity and cardiometabolic diseases such as heart disease and type 2 diabetes.
These findings could be targeted to develop new treatments or cures.
The study looked at how genes' activity actually manifests in human patients and the findings will help doctors and scientists better understand how normal gene variations can affect individuals' health and risk for disease.
The study included 770 Finnish men who had their health histories, body composition, blood work and other wellness factors, well-documented.
The precise documentation allowed the researchers to draw conclusions about the effects of gene variations that naturally occur in subcutaneous fat.
"Type 2 diabetes, coronary artery disease and obesity are multifactorial and complex diseases," Civelek said. "Genetic factors do not work in isolation - they work in a holistic way, so I think that these kind of studies that we are publishing are key to understanding what's happening in human populations." Civelek added.
The understanding that genetic factors in conjunction with many other factors like lifestyle, could help in identifying better treatments for cardiometabolic diseases that pose a tremendous public health threat.
"Maybe by looking at these other markers we will be able to predict someone's risk much better, so that, for example, they can modify their diet or lifestyle even before type 2 diabetes develops," Civelek said. "Or let's say type 2 diabetes has already developed. We might be able to target some of these novel genes as a potential cure."
Genes in 3D
A 3D view of DNA helped to identify that the DNA the strands are clumped together inside cells.
Genes that appear far away from each other when viewed linearly actually may be quite close when DNA strands are clumped inside the cell. That physical proximity affects what they do.
"For a lot of cases, what we found was that these different genomic regions actually affect gene expression in a far-away locus, not necessarily the immediate neighborhood," he said. "That's because the DNA is compacted and there's a three-dimensional structure. [Genes] can actually come together in three-dimensional space and can affect each other."
The 3D findings can help in identifying the precise role of genes. It may help to understand which genes are at work that actually contribute to a condition.
"We're saying that it may be the gene that we thought was causing a phenomenon is not," Civelek said. "There may actually be another gene at work that is a little bit farther away."
Their findings have been published in the American Journal of Human Genetics.
- Mete Civelek et al. Genetic Regulation of Adipose Gene Expression and Cardio-Metabolic Traits. American Journal of Human Genetics ; (2017) doi.org/10.1016/j.ajhg.2017.01.027
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